Database CD40Lbase
Version 2.5
File cd40lpub.html
Date 16-Jun-2011
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/CD40Lbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF16.html
Gene CD40L; TNFSF5; CD40LG
Disease X-linked hyper-IgM syndrome (XHIM)
OMIM 308230
GDB 120632
Sequence IDRefSeq:D0015; IDRefSeq:C0015; UniProt:P29965
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID R11X(1); standard; MUTATION; IC
Accession C0079
Systematic name g.1086C>T, c.87C>T, p.R11X
Original code DJ
Description Point mutation in the exon 1 leading to a premature stop
Description codon in the IC domain
Date 30-May-2002 (Rel. 3, Created)
Date 30-May-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1086
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 87
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 11
Feature /change: R -> X
Feature /domain: IC
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Caucasoid
Symptoms Hematological abnormalities
Symptoms Neutropenia: intermittent
Symptoms Anemia
Treatment IVIG: intermittent
Treatment Still on IVIG
//
ID R11X(2); standard; MUTATION; IC
Accession C0217
Systematic name g.1086C>T, c.31C>T, r.31c>u, p.Arg11X
Original code 16-year-old male
Description A point mutation in the exon 1 leading to a premature stop
Description codon in the IC domain
Date 15-Mar-2007 (Rel. 1, Created)
Date 15-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16169277
RefAuthors Blaeser, F., Kelly, M., Siegrist, K., Storch, G. A.,
RefAuthors Buller, R. S., Whitlock, J., Truong, N., Chatila, T. A.
RefTitle Critical function of the CD40 pathway in parvovirus B19
RefTitle infection revealed by a hypomorphic CD40 ligand mutation.
RefLoc Clin Immunol:231-237 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1086
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 87
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 11
Feature /change: R -> X
Feature /domain: IC
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Anemia
Symptoms Other clinical features: chronic parvovirus B19-induced
Symptoms anemia, recurrent sinusitis, otitis media
Sex XY
Treatment IVIG: intermittent
Treatment Still on IVIG
Treatment Prophylactic medication
Treatment Other:IFN therapy
//
ID R11X(3a); standard; MUTATION; IC
Accession C0231
Systematic name g.1086C>T, c.31C>T, r.31c>u, p.Arg11X
Original code 1a
Description A point mutation in the exon 1 leading to a premature stop
Description codon in the IC domain
Date 21-Apr-2008 (Rel. 1, Created)
Date 21-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17351759
RefAuthors Danielian, S., Oleastro, M., Eva Rivas, M., Cantisano, C.,
RefAuthors Zelazko, M.
RefTitle Clinical follow-up of 11 argentinian CD40L-deficient
RefTitle patients with 7 unique mutations including the so-
RefTitle called 'milder' mutants.
RefLoc J Clin Immunol:455-459 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1086
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 87
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 11
Feature /change: R -> X
Feature /domain: IC
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Hematological abnormalities
Symptoms Anemia
Sex XY
Ethnic origin Argentina
Protein CD40L mutation
Relative CD40Lbase; C0232brother
IgA <7 mg/dl
IgG 190 mg/dl
IgM 75 mg/dl
//
ID R11X(3b); standard; MUTATION; IC
Accession C0232
Systematic name g.1086C>T, c.31C>T, r.31c>u, p.Arg11X
Original code 1b
Description A point mutation in the exon 1 leading to a premature stop
Description codon in the IC domain
Date 21-Apr-2008 (Rel. 1, Created)
Date 21-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17351759
RefAuthors Danielian, S., Oleastro, M., Eva Rivas, M., Cantisano, C.,
RefAuthors Zelazko, M.
RefTitle Clinical follow-up of 11 argentinian CD40L-deficient
RefTitle patients with 7 unique mutations including the so-
RefTitle called 'milder' mutants.
RefLoc J Clin Immunol:455-459 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1086
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 87
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 11
Feature /change: R -> X
Feature /domain: IC
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Sex XY
Ethnic origin Argentina
Protein CD40L mutation
Relative CD40Lbase; C0231brother
IgA 204 mg/dl
IgG 583 mg/dl
IgM 104 mg/dl
//
ID @M25X84(1); standard; MUTATION; TM
Accession C0219
Systematic name g.1127_1128ins, c.72_73ins291, r.72_73ins,
Systematic name p.Met25fsX60
Original code CER
Description A frameshift insertion of an AluYb8 element in the exon 1
Description leading to a premature stop codon
Date 16-Mar-2007 (Rel. 1, Created)
Date 16-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17146684
RefAuthors Apoil, P. A., Kuhlein, E., Robert, A., Rubie, H.,
RefAuthors Blancher, A.
RefTitle HIGM syndrome caused by insertion of an aluYb8 element in
RefTitle exon 1 of the CD40LG gene.
RefLoc Immunogenetics:17-23 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0015: 1128
Feature /change: +ttttttttga gacggagtct cgctctgtcg cccaggccgg
Feature /change: actgcggact gcagtggcgc aatctcggct cactgcaagc
Feature /change: tccgcttccc gggttcacgc cattctcctg cctcagcctc
Feature /change: ccgagtagct gggactacag gcgcccgcca ccgcgcccgg
Feature /change: ctaatttttt gtatttttag tagagacggg gtttcacctt
Feature /change: gttagccagg atggtctcga tctcctgacc tcatgatcca
Feature /change: cccgcctcgg cctcccaaag tgctgggatt acaggcgtga
Feature /change: ggaaaatttt t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 129
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 25
Feature /change: M ->
Feature /change: FFLRRSLALS PRPDCGLQWR NLGSLQAPLP GFTPFSCLSL
Feature /change: PSSWDYRRPP PRPANFLYFX
Feature /domain: TM
Symptoms Hematological abnormalities
Symptoms Neutropenia
Symptoms Other clinical features: persistent fever with recurring
Symptoms oropharyngeal infections
Sex XY
Protein Defects of CD40L expression
//
ID Y26X(1); standard; MUTATION; TM
Accession C0156
Systematic name g.1133T>G, c.78T>G, r.78u>g, p.Tyr26X
Original code Patient 2
Description A point mutation in the exon 1 leading to a premature stop
Description codon in the TM domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1133
Feature /change: t -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 134
Feature /codon: tat -> tag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 26
Feature /change: Y -> X
Feature /domain: TM
Sex XY
//
ID #T29X36(1); standard; MUTATION; TM
Accession C0251
Systematic name g.1142delT, c.87delT, r.87delu, p.Val30fsX7
Original code P5
Description A frame shift deletion mutation in the exon 1 leading to a
Description premature stop codon in the TM domain
Date 06-Aug-2010 (Rel. 1, Created)
Date 06-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19575287
RefAuthors Aghamohammadi, A., Parvaneh, N., Rezaei, N., Moazzami, K.,
RefAuthors Kashef, S., Abolhassani, H., Imanzadeh, A., Mohammadi, J.,
RefAuthors Hammarstrom, L.
RefTitle Clinical and laboratory findings in hyper-igM syndrome
RefTitle with novel CD40L and AICDA mutations.
RefLoc J Clin Immunol:769-776 (2009)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 1142
Feature /change: -t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 143
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 29
Feature /change: T -> TFFLSPRX
Feature /domain: TM
Symptoms Otitis media; Sinusitis; Diarrhea; Atrophic tonsils;
Sex XY
Parents Non-consanguineous
IgA 0 mg/dl
IgG 90 mg/dl
IgM 245 mg/dl
//
ID M36R(1); standard; MUTATION; TM
Accession C0095
Systematic name g.1162T>G, c.163T>G, p.M36R
Original code A.T.
Description Point mutation in the exon 1 leading to an amino acid
Description change in the TM domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7679206
RefAuthors Korthauer, U., Graf, D., Mages, H. W., Briere, F.,
RefAuthors Padayachee, M., Malcolm, S., Ugazio, A. G., Notarangelo,
RefAuthors L. D., Levinsky, R. J., Kroczek, R. A.
RefTitle Defective expression of T-cell CD40 ligand causes X-linked
RefTitle immunodeficiency with hyper-IgM.
RefLoc Nature 361:539-541 (1993)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1162
Feature /change: t -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 163
Feature /codon: atg -> agg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 36
Feature /change: M -> R
Feature /domain: TM
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
//
ID M36R(2); standard; MUTATION; TM
Accession C0096
Systematic name g.1162T>G, c.163T>G, p.M36R
Original code MR
Description Point mutation in the exon 1 leading to an amino acid
Description change in the TM domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9150729
RefAuthors Nonoyama, S., Shimadzu, M., Toru, H., Seyama, K., Nunoi,
RefAuthors H., Neubauer, M., Yata, J., Och, H. D.
RefTitle Mutations of the CD40 ligand gene in 13 japanese patients
RefTitle with X-linked hyper-IgM syndrome.
RefLoc Hum Genet 99:624-627 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1162
Feature /change: t -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 163
Feature /codon: atg -> agg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 36
Feature /change: M -> R
Feature /domain: TM
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Mongoloid; Japan
//
ID G38R(1); standard; MUTATION; TM
Accession C0028
Systematic name g.1167G>C, c.168G>C, p.G38R
Description Point mutation in the exon 1 leading to an amino acid
Description change in the TM domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (26-May-1996) to CD40Lbase.
RefLoc C., O'Really, Cavan, Ireland
RefNumber [2]
RefCrossRef PUBMED; 8889581
RefAuthors Katz, F., Hinshelwood, S., Rutland, P., Jones, A., Kinnon,
RefAuthors C., Morgan, G.
RefTitle Mutation analysis in CD40 ligand deficiency leading to
RefTitle X-linked hypogammaglobulinemia with hyper IgM syndrome.
RefLoc Hum Mutat 8:223-228 (1996)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1167
Feature /change: g -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 168
Feature /codon: ggg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 38
Feature /change: G -> R
Feature /domain: TM
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 13/6/85
Relative Other affected family members: Yes; phenotype:same
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms CNS Infections
Symptoms Encephalitis: No pathogen isolated.viral ?
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Cryptosporidium
Symptoms Hematological abnormalities
Symptoms Anemia
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: Not searched
Symptoms Anti-neutrophil antibodies: Not searched
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: Not searched
Symptoms Other clinical features: "cryptosporidium diarrhea
Symptoms responding to oral gammaglobulin. neurological
Symptoms deterioration from 1995: brain biopsy, sera, etc. no
Symptoms organism; presumed viral encephalities. now in vegetative
Symptoms state"
Treatment IVIG: Constant
Treatment date started: 15/9/90
Treatment Still on IVIG, dose: 400mg/Kg/ 3 weeks
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 21/9/90
IgA 0 mg/dL
IgG 0 mg/dL
IgM 3,3 mg/dL
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Lymphocytes Lymphocytes
Lymphocytes most recent: 25/12/97
Lymphocytes total lymphocytes: 2453/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA: not done
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
//
ID G38R(2); standard; MUTATION; TM
Accession C0042
Systematic name g.1167G>C, c.168G>C, p.G38R
Description Point mutation in the exon 1 leading to an amino acid
Description change in the TM domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (26-May-1996) to CD40Lbase.
RefLoc C., O'Really, Cavan, Ireland
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1167
Feature /change: g -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 168
Feature /codon: ggg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 38
Feature /change: G -> R
Feature /domain: TM
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 14/7/89
Relative Other affected family members: Yes; phenotype:same
Diagnosis Date: 3/11/87
Status quo Deceased
Symptoms CNS Infections
Symptoms Meningitis: Tb 1991
Symptoms Osteo-articular Infections
Symptoms Osteomyelitis: No organism grown
Symptoms Gastro-intestinal tract manifestations
Symptoms Peritonitis
Symptoms Hematological abnormalities
Symptoms Neutropenia: cyclic
Symptoms Anemia
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: No
Symptoms Anti-neutrophil antibodies: No
Symptoms Anti-platelet antibodies: No
Symptoms Coombs positivity: No
Symptoms Other clinical features: Now has miliary bovine tb,
Symptoms previous tb infection by human organism
Treatment IVIG: Constant
Treatment date started: 15/12/87
Treatment Still on IVIG, dose: 400mg/Kg/ 2 weeks
Treatment responding to infection: good
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA: not done
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
//
ID S39X(1); standard; MUTATION; TM
Accession C0037
Systematic name g.1171C>A, c.172C>A, p.S39X
Original code JC
Description Point mutation in the exon 1 leading to a premature stop
Description codon in the TM domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (12-Feb-1996) to CD40Lbase.
RefLoc A., Fasth, Goteborg, Sweden
RefNumber [2]
RefCrossRef PUBMED; 7717401
RefAuthors Macchi, P., Villa, A., Strina, D., Sacco, M. G., Morali,
RefAuthors F., Brugnoni, D., Giliani, S., Mantuano, E., Fasth, A.,
RefAuthors Andersson, B.
RefTitle Characterization of nine novel mutations in the CD40
RefTitle ligand gene in patients with X-linked hyper IgM syndrome
RefTitle of various ancestry.
RefLoc Am J Hum Genet 56:898-906 (1995)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1171
Feature /change: c -> a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 172
Feature /codon: tca -> taa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 39
Feature /change: S -> X
Feature /domain: TM
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 18/4/79
Diagnosis Date: 15/2/80
Status quo Alive
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: PCP
Symptoms Sepsis
Symptoms Bacterial: Enterobacter
Symptoms CNS Infections
Symptoms Encephalitis: Cmv
Symptoms Gastro-intestinal tract manifestations
Symptoms Oral ulcers
Symptoms Protracted diarrhea
Symptoms Unknown etiology
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: No
Symptoms Anti-neutrophil antibodies: No
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: No
Treatment IVIG: Constant
Treatment date started: 15/6/84
Treatment Still on IVIG, dose: 100mg/Kg/
Treatment responding to infection: good
Treatment responding to neutropenia: no effect
Treatment responding to serum IgM levels: good
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment antibiotics: intermittent
Treatment G-CSF: constant
Treatment Effect on neutrophil count: good
Treatment dose: 0,5µg/Kg/ 1 day(s)
Treatment Steroids: never
Treatment Total parental nutrition: Yes. Still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 14/2/80
IgA 0,01 mg/dL
IgE 0,8 kU/L
IgG 2 mg/dL
IgM 4,5 mg/dL
Response Antibody responses
Response D/T, date: 14/4/80: absent
Response PPS: not done
Response HiB, date: 14/5/80: absent
Response Pneumococcus, 2date: 14/5/80: absent
Response Blood group: A+
Response Isoagglutinins: anti-B: 0
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 14/5/80
Lymphocytes total lymphocytes: 9200/mm3
Lymphocytes total B: 90/mm3
Lymphocytes most recent: 12/11/91
Lymphocytes total lymphocytes: 3600/mm3
Lymphocytes total CD4: 1080/mm3
Lymphocytes total CD8: 1220/mm3
Lymphocytes total B: 790/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 12/11/91: low
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens, date: 12/11/91: low
//
ID R48X(1); standard; MUTATION; ECU
Accession C0061
Systematic name g.1197A>T, c.198A>T, p.R48X
Description Point mutation in the exon 1 leading to a premature stop
Description codon in the ECU domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc D., Plantaz, A., Fischer
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1197
Feature /change: a -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 198
Feature /codon: aga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 48
Feature /change: R -> X
Feature /domain: ECU
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 11/5/83
Relative Other affected family members: Yes; phenotype:not
Relative assessable
Diagnosis Date: 11/5/85
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms CNS Infections
Symptoms Encephalitis: Toxoplasma g.
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Cryptosporidium
Symptoms Bacterial: Salmonella,e.coli
Symptoms Unknown etiology
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Autoimmune manifestations
Symptoms Arthritis
Symptoms Anti-nuclear antibodies: No
Symptoms Anti-neutrophil antibodies: No
Symptoms Anti-platelet antibodies: No
Symptoms Coombs positivity: No
Symptoms Other clinical features: Hemophagocytic syndrome
Symptoms associated with undetermined infection
Treatment IVIG: Constant
Treatment date started: 15/6/94
Treatment Still on IVIG, dose: 400mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment responding to neutropenia: good
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment antibiotics: constant
Treatment G-CSF: never
Treatment Steroids: intermittent
Treatment Total parental nutrition: Yes. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 9/10/85
IgA 0,8 mg/dL
IgG 0,9 mg/dL
IgM 2,35 mg/dL
Response Antibody responses
Response D/T, date: 15/12/85: normal
Response PPS: not done
Response HiB: absent
Response Blood group: B+
Response Isoagglutinins: anti-A: 0
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 8/10/87
Lymphocytes total lymphocytes: 5000/mm3
Lymphocytes total CD4: 3000/mm3
Lymphocytes total CD8: 800/mm3
Lymphocytes total B: 800/mm3
Lymphocytes most recent: 25/5/94
Lymphocytes total lymphocytes: 1760/mm3
Lymphocytes total CD4: 490/mm3
Lymphocytes total CD8: 740/mm3
Lymphocytes total B: 440/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 10/5/94: low
//
ID K52K(1); standard; MUTATION; ECU
Accession C0050
Systematic name g.1211G>A, c.212G>A, p.K52K
Description Point mutation in the exon 1 leading to an amino acid
Description change in the ECU domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (18-Mar-1998) to CD40Lbase.
RefLoc A., Fischer, Paris, France
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1211
Feature /change: g -> a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 212
Feature /codon: aag -> aaa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 52
Feature /change: K -> K
Feature /domain: ECU
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 3/6/93
Diagnosis Date: 26/11/93
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: PCP
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Bacterial: Campylobacter jejuni /e.coli
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: Not searched
Symptoms Anti-neutrophil antibodies: Not searched
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: Not searched
Treatment IVIG: Constant
Treatment date started: 24/3/94
Treatment Still on IVIG, dose: 500mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 10/12/93
IgA 0,08 mg/dL
IgE 5 kU/L
IgG 0,42 mg/dL
IgM 0,51 mg/dL
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 1/12/93
Lymphocytes total lymphocytes: 17500/mm3
Lymphocytes total CD4: 13000/mm3
Lymphocytes total CD8: 875/mm3
Lymphocytes total B: 1600/mm3
Lymphocytes most recent: 22/1/98
Lymphocytes total lymphocytes: 5300/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 1/12/93: normal
Lymphocytes anti-CD3, date: 1/12/93: normal
Lymphocytes antigens, date: 1/12/93: normal
Lymphocytes alloantigens, date: 1/12/93: normal
//
ID K52X(1); standard; MUTATION; ECU
Accession C0157
Systematic name g.1209A>T, c.154A>T, r.154a>u, p.Lys52X
Original code Patient 4
Description A point mutation in the exon 1 leading to a premature stop
Description codon in the ECU domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1209
Feature /change: a -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 210
Feature /codon: aag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 52
Feature /change: K -> X
Feature /domain: ECU
Sex XY
//
ID #I53X65(1); standard; MUTATION; ECU
Accession C0003
Systematic name g.3073_3076delATAG, c.213_216delATAG, p.I53fsX65
Description Deletion in the exon 2 leading to a premature stop codon
Description in the ECU domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (6-May-1996) to CD40Lbase.
RefLoc L., Notarangelo, Brescia, Italy
RefNumber [2]
RefCrossRef PUBMED; 7717401
RefAuthors Macchi, P., Villa, A., Strina, D., Sacco, M. G., Morali,
RefAuthors F., Brugnoni, D., Giliani, S., Mantuano, E., Fasth, A.,
RefAuthors Andersson, B.
RefTitle Characterization of nine novel mutations in the CD40
RefTitle ligand gene in patients with X-linked hyper IgM syndrome
RefTitle of various ancestry.
RefLoc Am J Hum Genet 56:898-906 (1995)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 3073..3076
Feature /change: -atag
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 213..216
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 53..54
Feature /change: IE -> KMKGIFMKIL YSX
Feature /domain: ECU
Protein CD40L mutation
Date of birth 30/9/73
Diagnosis Date: 22/4/74
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Gastro-intestinal tract manifestations
Symptoms Oral ulcers
Symptoms Protracted diarrhea
Symptoms Unknown etiology
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Other clinical features: Urinary tract infections
Treatment IVIG: Constant
Treatment date started: 6/10/74
Treatment Still on IVIG, dose: 400mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment responding to neutropenia: marginal
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 22/4/74
IgA 0,05 mg/dL
IgG 1,7 mg/dL
IgM 1 mg/dL
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Opv, 2date: 4/10/74: normal
Response Blood group: A
Response Isoagglutinins: anti-B: 0,12
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 2/3/94
Lymphocytes total lymphocytes: 2300/mm3
Lymphocytes total CD4: 1200/mm3
Lymphocytes total CD8: 780/mm3
Lymphocytes total B: 190/mm3
Lymphocytes most recent: 10/11/94
Lymphocytes total lymphocytes: 2570/mm3
Lymphocytes total CD4: 1350/mm3
Lymphocytes total CD8: 840/mm3
Lymphocytes total B: 230/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 10/11/94: normal
Lymphocytes anti-CD3, date: 10/11/94: normal
Lymphocytes antigens, date: 10/11/94: not done
Lymphocytes alloantigens: not done
//
ID #I53X65(2); standard; MUTATION; ECU
Accession C0112
Systematic name g.3073_3076delATAG, c.213_216delATAG, p.I53fsX65
Original code SU
Description Deletion in the exon 2 leading to a premature stop codon
Description in the ECU domain
Date 25-Jul-2002 (Rel. 3, Created)
Date 25-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9150729
RefAuthors Nonoyama, S., Shimadzu, M., Toru, H., Seyama, K., Nunoi,
RefAuthors H., Neubauer, M., Yata, J., Och, H. D.
RefTitle Mutations of the CD40 ligand gene in 13 japanese patients
RefTitle with X-linked hyper-IgM syndrome.
RefLoc Hum Genet 99:624-627 (1997)
RefNumber [2]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 3073..3076
Feature /change: -atag
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 213..216
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 53..54
Feature /change: IE -> KMKGIFMKIL YSX
Feature /domain: ECU
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Mongoloid; Japan
//
ID #I53X65(3); standard; MUTATION; ECU
Accession C0145
Systematic name g.3074_3077delTAGA, c.158_161delTAGA, r.158_161deluaga,
Systematic name p.Ile53fsX13
Original code patient 24
Description A frame shift deletion mutation in the exon 2 leading to a
Description premature stop codon in the ECU domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14514918
RefAuthors Gilmour, K. C., Walshe, D., Heath, S., Monaghan, G.,
RefAuthors Loughlin, S., Lester, T., Norbury, G., Cale, C. M.
RefTitle Immunological and genetic analysis of 65 patients with a
RefTitle clinical suspicion of X linked hyper-igM.
RefLoc Mol Pathol 56:256-262 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 3074..3077
Feature /change: -taga
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 214..217
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 53..54
Feature /change: IE -> KMKGIFMKIL YSX
Feature /domain: ECU
Sex XY
//
ID #I53X65(4); standard; MUTATION; ECU
Accession C0146
Systematic name g.3074_3077delTAGA, c.158_161delTAGA, r.158_161deluaga,
Systematic name p.Ile53fsX13
Original code patient 25
Description A frame shift deletion mutation in the exon 2 leading to a
Description premature stop codon in the ECU domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14514918
RefAuthors Gilmour, K. C., Walshe, D., Heath, S., Monaghan, G.,
RefAuthors Loughlin, S., Lester, T., Norbury, G., Cale, C. M.
RefTitle Immunological and genetic analysis of 65 patients with a
RefTitle clinical suspicion of X linked hyper-igM.
RefLoc Mol Pathol 56:256-262 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 3074..3077
Feature /change: -taga
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 214..217
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 53..54
Feature /change: IE -> KMKGIFMKIL YSX
Feature /domain: ECU
Sex XY
//
ID #I53X65(5); standard; MUTATION; ECU
Accession C0196
Systematic name g.3073_3076delATAG, c.157_160delATAG, r.157_160delauag,
Systematic name p.Ile53fsX13
Original code patient 14
Description A frame shift deletion mutation in the exon 2 leading to a
Description premature stop codon in the ECU domain
Date 12-Nov-2004 (Rel. 3, Created)
Date 12-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 3073..3076
Feature /change: -atag
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 213..216
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 53..54
Feature /change: IE -> KMKGIFMKIL YSX
Feature /domain: ECU
//
ID #I53X65(6); standard; MUTATION; ECU
Accession C0244
Systematic name g.3073_3076delATAG, c.157_160delATAG, r.157_160delauag,
Systematic name p.Ile53fsX13
Original code P2
Description A frame shift deletion mutation in the exon 2 leading to a
Description premature stop codon in the ECU domain
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19170966
RefAuthors Rangel-Santos, A., Wakim, V. L., Jacob, C. M., Pastorino,
RefAuthors A. C., Cunha, J. M., Collanieri, A. C., Niemela, J. E.,
RefAuthors Grumach, A. S., Duarte, A. J., Moraes-Vasconcelos, D.,
RefAuthors Oliveira, J. B.
RefTitle Molecular characterization of patients with X-linked hyper-
RefTitle igM syndrome: description of two novel CD40L mutations.
RefLoc Scand J Immunol:169-173 (2009)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 3073..3076
Feature /change: -atag
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 213..216
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 53..54
Feature /change: IE -> KMKGIFMKIL YSX
Feature /domain: ECU
Sex XY
Ethnic origin Brazil
Comment Patient's mother was carrier of the same mutation.
//
ID E56X(1); standard; MUTATION; ECU
Accession C0080
Systematic name g.3082G>T, c.222G>T, p.E56X
Original code NC
Description Point mutation in the exon 2 leading to a premature stop
Description codon in the ECU domain
Date 30-May-2002 (Rel. 3, Created)
Date 30-May-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 3082
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 222
Feature /codon: gaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 56
Feature /change: E -> X
Feature /domain: ECU
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Mongoloid
Treatment IVIG: constant
Treatment Still on IVIG
//
ID #D62X79(1); standard; MUTATION; ECU
Accession C0252
Systematic name g.3100_3116delGATTTTGTATTCATGAA,
Systematic name c.184_200delGATTTTGTATTCATGAA,
Systematic name r.184_200delgauuuuguauucaugaa, p.Asp62fsX18
Original code P6
Description A frame shift deletion mutation in the exon 2 leading to a
Description premature stop codon in the ECU domain
Date 06-Aug-2010 (Rel. 1, Created)
Date 06-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19575287
RefAuthors Aghamohammadi, A., Parvaneh, N., Rezaei, N., Moazzami, K.,
RefAuthors Kashef, S., Abolhassani, H., Imanzadeh, A., Mohammadi, J.,
RefAuthors Hammarstrom, L.
RefTitle Clinical and laboratory findings in hyper-igM syndrome
RefTitle with novel CD40L and AICDA mutations.
RefLoc J Clin Immunol:769-776 (2009)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 3100..3116
Feature /change: -gattttgtat tcatgaa
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 240..256
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 62..67
Feature /change: DFVFMK -> NDTEMQHRRK ILILTELX
Feature /domain: ECU
Symptoms Pneumonia; Sinusitis; Oral ulcer;
Sex XY
Parents Non-consanguineous
IgA 270 mg/dl
IgG 120 mg/dl
IgM 355 mg/dl
//
ID Q70X(1); standard; MUTATION; ECU
Accession C0161
Systematic name g.3124C>T, c.208C>T, r.208c>u, p.Gln70X
Original code Patient 10
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the ECU domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 3124
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 264
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 70
Feature /change: Q -> X
Feature /domain: ECU
Sex XY
//
ID #Q70X84(1); standard; MUTATION; ECU
Accession C0197
Systematic name g.3124_3125delCA, c.208_209delCA, r.208_209delca,
Systematic name p.Gln70fsX15
Original code patient 15
Description A frame shift deletion mutation in the exon 2 leading to a
Description premature stop codon in the ECU domain
Date 12-Nov-2004 (Rel. 3, Created)
Date 12-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 3124..3125
Feature /change: -ca
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 264..265
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 70
Feature /change: Q -> EMQHRRKILI LTELX
Feature /domain: ECU
//
ID @R71X71(1); standard; MUTATION; ECU
Accession C0002
Systematic name g.3126_3127insT, c.266_267insT, p.R71fsX71
Description Insertion in the exon 2 leading to a premature stop codon
Description in the ECU domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (10-May-1996) to CD40Lbase.
RefLoc T., Espanol, Barcelona, Spain
RefNumber [2]
RefCrossRef PUBMED; 7586644
RefAuthors Kraakman, M. E., de Weers, M., Español, T., Schuurman, R.
RefAuthors K., Hendriks, R. W.
RefTitle Identification of a CD40L gene mutation and genetic
RefTitle counselling in a family with immunodeficiency with
RefTitle hyperimmunoglobulinemia M.
RefLoc Clin Genet 48:46-48 (1995)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0015: 3127
Feature /change: +t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 267
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 71
Feature /change: R -> X
Feature /domain: ECU
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 6/10/80
Relative Other affected family members: Yes; phenotype:worse
Diagnosis Date: 8/7/81
Status quo Alive
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Gastro-intestinal tract manifestations
Symptoms Oral ulcers
Symptoms Protracted diarrhea
Symptoms Bacterial: Campylobacter
Symptoms Other: Candida
Symptoms Liver/biliary tract abnormalities
Symptoms Sclerosing cholangitis
Symptoms Idiopathic
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: Yes
Symptoms Anti-neutrophil antibodies: No
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: No
Symptoms Other clinical features: Liver tx relapse of sclerosing
Symptoms cholangitis
Treatment IVIG: Constant
Treatment date started: 24/8/93
Treatment Still on IVIG, dose: 400mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment responding to neutropenia: marginal
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment G-CSF: never
Treatment Total parental nutrition: Yes. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 8/7/81
IgA 0 mg/dL
IgE 1000 kU/L
IgG 0,36 mg/dL
IgM 0,54 mg/dL
Response Antibody responses
Response Blood group: O
Response Isoagglutinins: anti-A: 0,12; anti-B: 1
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 8/7/81
Lymphocytes total lymphocytes: 5940/mm3
Lymphocytes total CD4: 2286/mm3
Lymphocytes total CD8: 0/mm3
Lymphocytes total B: 831/mm3
Lymphocytes most recent: 29/5/85
Lymphocytes total lymphocytes: 1799/mm3
Lymphocytes total CD4: 825/mm3
Lymphocytes total CD8: 0/mm3
Lymphocytes total B: 122/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 29/9/95: normal
Lymphocytes anti-CD3, date: 29/9/95: normal
Lymphocytes antigens, date: 29/9/95: not done
Lymphocytes alloantigens: not done
//
ID C72X(1); standard; MUTATION; ECU
Accession C0106
Systematic name g.3132C>A, c.272C>A, p.C72X
Original code Subject 3
Description Point mutation in the exon 2 leading to a premature stop
Description codon in the ECU domain
Date 06-Jun-2002 (Rel. 3, Created)
Date 06-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8550833
RefAuthors Lin, Q., Rohrer, J., Allen, R. C., Larche, M., Greene, J.
RefAuthors M., Shigeoka, A. O., Gatti, R. A., Derauf, D. C., Belmont,
RefAuthors J. W., Conley, M. E.
RefTitle A single strand conformation polymorphism study of CD40
RefTitle ligand. efficient mutation analysis and carrier detection
RefTitle for X-linked hyper IgM syndrome.
RefLoc J Clin Invest 97:196-201 (1996)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 3132
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 272
Feature /codon: tgc -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 72
Feature /change: C -> X
Feature /domain: ECU
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Relative Description of pedigree:Inherited
//
ID C72X(2a); standard; MUTATION; ECU
Accession C0220
Systematic name g.3132C>A, c.216C>A, r.216c>a, p.Cys72X
Original code P1
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the ECU domain
Date 17-Apr-2008 (Rel. 1, Created)
Date 17-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17553565
RefAuthors Erdos, M., Lakos, G., Derfalvi, B., Notarangelo, L. D.,
RefAuthors Durandy, A., Marodi, L.
RefTitle Molecular genetic analysis of hungarian patients with the
RefTitle hyper-immunoglobulin M syndrome.
RefLoc Mol Immunol:278-282 (2008)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 3132
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 272
Feature /codon: tgc -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 72
Feature /change: C -> X
Feature /domain: ECU
Sex XY
Ethnic origin Hungary
Relative CD40Lbase; C0221brother
//
ID C72X(2b); standard; MUTATION; ECU
Accession C0221
Systematic name g.3132C>A, c.216C>A, r.216c>a, p.Cys72X
Original code P2
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the ECU domain
Date 17-Apr-2008 (Rel. 1, Created)
Date 17-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17553565
RefAuthors Erdos, M., Lakos, G., Derfalvi, B., Notarangelo, L. D.,
RefAuthors Durandy, A., Marodi, L.
RefTitle Molecular genetic analysis of hungarian patients with the
RefTitle hyper-immunoglobulin M syndrome.
RefLoc Mol Immunol:278-282 (2008)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 3132
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 272
Feature /codon: tgc -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 72
Feature /change: C -> X
Feature /domain: ECU
Sex XY
Ethnic origin Hungary
Relative CD40Lbase; C0220brother
IgA 78 mg/dl
IgG 210 mg/dl
IgM 94 mg/dl
Lymphocytes Lymphocytes
Lymphocytes at diagnosis:
Lymphocytes total lymphocytes: 4200/mm3
Lymphocytes total CD4: 1500/mm3
Lymphocytes total CD8: 1400/mm3
//
ID E76X(1); standard; MUTATION; ECU
Accession C0043
Systematic name g.3142G>T, c.282G>T, p.E76X
Description Point mutation in the exon 2 leading to a premature stop
Description codon in the ECU domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (26-May-1996) to CD40Lbase.
RefLoc A., Jones, London, UK
RefNumber [2]
RefCrossRef PUBMED; 8889581
RefAuthors Katz, F., Hinshelwood, S., Rutland, P., Jones, A., Kinnon,
RefAuthors C., Morgan, G.
RefTitle Mutation analysis in CD40 ligand deficiency leading to
RefTitle X-linked hypogammaglobulinemia with hyper IgM syndrome.
RefLoc Hum Mutat 8:223-228 (1996)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 3142
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 282
Feature /codon: gaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 76
Feature /change: E -> X
Feature /domain: ECU
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 29/5/76
Diagnosis Date: 15/4/79
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Sepsis
Symptoms Osteo-articular Infections
Symptoms Arthritis: No pathogen identified
Symptoms Gastro-intestinal tract manifestations
Symptoms Oral ulcers
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: Not searched
Symptoms Anti-neutrophil antibodies: Not searched
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: Not searched
Treatment IVIG: Constant
Treatment date started: 15/10/89
Treatment Still on IVIG
Treatment responding to infection: good
Treatment Prophylactic medication
Treatment antibiotics: never
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 15/4/79
IgA 0,15 mg/dL
IgG 0,35 mg/dL
IgM 2 mg/dL
Response Antibody responses
Response E.coli, 2date: 15/4/79: normal
Response Blood group: O-
Response Isoagglutinins: anti-A: 0; anti-B: 0
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 15/4/79: low
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
//
ID E76X(2); standard; MUTATION; ECU
Accession C0073
Systematic name g.3142G>T, c.282G>T, p.E76X
Description Point mutation in the exon 2 leading to a premature stop
Description codon in the ECU domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (7-Mar-1996) to CD40Lbase.
RefLoc T., Klemola, Helsinki, Finland
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 3142
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 282
Feature /codon: gaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 76
Feature /change: E -> X
Feature /domain: ECU
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 27/4/87
Diagnosis Date: 27/4/88
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: PCP
Symptoms Hematological abnormalities
Symptoms Neutropenia: cyclic
Treatment IVIG: Constant
Treatment date started: 27/4/88
Treatment Still on IVIG, dose: 400mg/Kg/
Treatment responding to infection: good
Treatment responding to neutropenia: marginal
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment antibiotics: constant
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Yes. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 25/4/88
IgA 0,04 mg/dL
IgE 5 kU/L
IgG 0,2 mg/dL
IgM 1,3 mg/dL
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 28/4/88
Lymphocytes total lymphocytes: 7387/mm3
Lymphocytes total CD4: 4060/mm3
Lymphocytes total CD8: 1260/mm3
Lymphocytes total B: 960/mm3
Lymphocytes most recent: 14/1/92
Lymphocytes total lymphocytes: 4620/mm3
Lymphocytes total CD4: 1480/mm3
Lymphocytes total CD8: 970/mm3
Lymphocytes total B: 650/mm3
//
ID @L81X85(1a); standard; MUTATION; ECU
Accession C0008
Systematic name g.3158_3159insT, c.298_299insT, p.L81fsX85
Description Insertion in the exon 2 leading to a premature stop codon
Description in the ECU domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc P., Paolucci, S., Giovanni, Rotondo, Italia, A., Jones,
RefLoc London, England
RefNumber [2]
RefCrossRef PUBMED; 8889581
RefAuthors Katz, F., Hinshelwood, S., Rutland, P., Jones, A., Kinnon,
RefAuthors C., Morgan, G.
RefTitle Mutation analysis in CD40 ligand deficiency leading to
RefTitle X-linked hypogammaglobulinemia with hyper IgM syndrome.
RefLoc Hum Mutat 8:223-228 (1996)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0015: 3159
Feature /change: +t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 299
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 81
Feature /change: L -> FTELX
Feature /domain: ECU
Protein CD40L mutation
Date of birth 14/2/83
Relative CD40Lbase; C0152
Relative Other affected family members: Yes
Relative C0152
Diagnosis Date: 27/7/83
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Sepsis
Symptoms Bacterial
Symptoms Gastro-intestinal tract manifestations
Symptoms Oral ulcers
Symptoms Protracted diarrhea
Symptoms Bacterial
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: No
Symptoms Anti-neutrophil antibodies: Not searched
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: No
Treatment IVIG: Constant
Treatment date started: 23/7/87
Treatment Still on IVIG, dose: 300mg/Kg/ 10 weeks
Treatment responding to infection: good
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 21/5/96
IgA 2,92 mg/dL
IgG 3,1 mg/dL
IgM 2,05 mg/dL
Response Antibody responses
Response D/T, date: 15/6/84: absent
Response PPS: not done
Response HiB: not done
Response Polio salk: absent
Response Blood group: O+
Response Isoagglutinins: anti-A: 0,016; anti-B: 0,0078
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 15/7/83
Lymphocytes total lymphocytes: 8610/mm3
Lymphocytes most recent: 20/2/96
Lymphocytes total lymphocytes: 2898/mm3
Lymphocytes total CD4: 1375/mm3
Lymphocytes total CD8: 389/mm3
Lymphocytes total B: 395/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 15/6/96: normal
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
//
ID @L81X85(2); standard; MUTATION; ECU
Accession C0009
Systematic name g.3158_3159insT, c.298_299insT, p.L81fsX85
Description Insertion in the exon 2 leading to a premature stop codon
Description in the ECU domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (26-May-1996) to CD40Lbase.
RefLoc R., Haguf, Glasgow, England
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0015: 3159
Feature /change: +t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 299
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 81
Feature /change: L -> FTELX
Feature /domain: ECU
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 16/3/95
Relative Other affected family members: Yes
Diagnosis Date: 15/7/95
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Autoimmune manifestations
Symptoms Anti-neutrophil antibodies: No
Symptoms Anti-platelet antibodies: No
Symptoms Coombs positivity: Not searched
Treatment IVIG: Constant
Treatment date started: 16/8/95
Treatment Still on IVIG, dose: 1000mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment responding to neutropenia: no effect
Treatment responding to serum IgM levels: good
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 11/2/95
IgA 0,2 mg/dL
IgG 1,28 mg/dL
IgM 0,27 mg/dL
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 17/8/95
Lymphocytes total lymphocytes: 10125/mm3
Lymphocytes total CD4: 4597/mm3
Lymphocytes total CD8: 1022/mm3
Lymphocytes total B: 4086/mm3
Lymphocytes most recent: 19/11/97
Lymphocytes total lymphocytes: 4400/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA: not done
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
//
ID @L81X85(1b); standard; MUTATION; ECU
Accession C0152
Systematic name g.3158dupT, c.242dupT, r.242dupu, p.Leu81fsX5
Original code patient 32
Description A frame shift duplication mutation in the exon 2 leading to
Description a premature stop codon in the ECU domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14514918
RefAuthors Gilmour, K. C., Walshe, D., Heath, S., Monaghan, G.,
RefAuthors Loughlin, S., Lester, T., Norbury, G., Cale, C. M.
RefTitle Immunological and genetic analysis of 65 patients with a
RefTitle clinical suspicion of X linked hyper-igM.
RefLoc Mol Pathol 56:256-262 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0015: 3159
Feature /change: +t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 299
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 81
Feature /change: L -> FTELX
Feature /domain: ECU
Sex XY
Relative CD40Lbase; C0008
//
ID K96X(1); standard; MUTATION; ECU
Accession C0216
Systematic name g.3202A>T, c.286A>T, r.286a>u, p.Lys96X
Original code 5-month-old boy
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the ECU domain
Date 14-Sep-2006 (Rel. 1, Created)
Date 14-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15997875
RefAuthors Ma, Y. C., Lee, W. I., Shyur, S. D., Lin, S. C., Huang, L.
RefAuthors H., Wu, J. Y.
RefTitle De novo mutation causing X-linked hyper-igM syndrome: a
RefTitle family study in taiwan.
RefLoc Asian Pac J Allergy Immunol:53-59 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 3202
Feature /change: a -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 342
Feature /codon: aag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 96
Feature /change: K -> X
Feature /domain: ECU
Symptoms Other clinical features: rapidly progressive pneumonia
Ethnic origin Mongoloid; Taiwan
IgA 4 mg/dl
IgG 18 mg/dl
IgM 128 mg/dl
Treatment IVIG: constant
Treatment Prophylactic medication
Treatment trimethoprim-sulfamethoxazole: constant
//
ID #I98X100(1); standard; MUTATION; ECU
Accession C0010
Systematic name g.7185delA, c.350delA, p.I98fsX100
Description Deletion in the exon 3 leading to a premature stop codon
Description in the ECU domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (26-May-1996) to CD40Lbase.
RefLoc A., Jones, London, England
RefNumber [2]
RefCrossRef PUBMED; 8889581
RefAuthors Katz, F., Hinshelwood, S., Rutland, P., Jones, A., Kinnon,
RefAuthors C., Morgan, G.
RefTitle Mutation analysis in CD40 ligand deficiency leading to
RefTitle X-linked hypogammaglobulinemia with hyper IgM syndrome.
RefLoc Hum Mutat 8:223-228 (1996)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 7185
Feature /change: -a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 350
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 98
Feature /change: I -> ICX
Feature /domain: ECU
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 20/7/73
Relative Other affected family members: Yes
Diagnosis Date: 28/1/77
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Gastro-intestinal tract manifestations
Symptoms Oral ulcers
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: No
Symptoms Anti-neutrophil antibodies: Not searched
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: Not searched
Treatment IVIG: Constant
Treatment date started: 15/6/87
Treatment Still on IVIG, dose: 250mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment responding to neutropenia: good
Treatment responding to serum IgM levels: marginal
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 9/1/78
IgA 0,05 mg/dL
IgG 2,4 mg/dL
IgM 2,2 mg/dL
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Isoagglutinins: anti-A: 0; anti-B: 0
Lymphocytes Lymphocytes
Lymphocytes most recent: 7/8/92
Lymphocytes total lymphocytes: 1710/mm3
Lymphocytes total CD4: 540/mm3
Lymphocytes total CD8: 530/mm3
Lymphocytes total B: 190/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 1/3/91: normal
//
ID @N101X112(1); standard; MUTATION; ECU
Accession C0143
Systematic name g.7193dupA, c.302dupA, r.302dupa, p.Asn101fsX12
Description A frame shift duplication mutation in the exon 3 leading to
Description a premature stop codon in the ECU domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14514918
RefAuthors Gilmour, K. C., Walshe, D., Heath, S., Monaghan, G.,
RefAuthors Loughlin, S., Lester, T., Norbury, G., Cale, C. M.
RefTitle Immunological and genetic analysis of 65 patients with a
RefTitle clinical suspicion of X linked hyper-igM.
RefLoc Mol Pathol 56:256-262 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0015: 7194
Feature /change: +a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 359
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 101
Feature /change: N -> KQRGDEERKQ LX
Feature /domain: ECU
Sex XY
//
ID #K107X125(1); standard; MUTATION; ECU
Accession C0011
Systematic name g.7210_7216delAAAGAAA, c.375_381delAAAGAAA, p.K107fsX125
Description Deletion in the exon 3 leading to a premature stop codon
Description in the ECU domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (26-May-1996) to CD40Lbase.
RefLoc A., Jones, London, UK
RefNumber [2]
RefCrossRef PUBMED; 8889581
RefAuthors Katz, F., Hinshelwood, S., Rutland, P., Jones, A., Kinnon,
RefAuthors C., Morgan, G.
RefTitle Mutation analysis in CD40 ligand deficiency leading to
RefTitle X-linked hypogammaglobulinemia with hyper IgM syndrome.
RefLoc Hum Mutat 8:223-228 (1996)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 7210..7216
Feature /change: -aaagaaa
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 375..381
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 107..109
Feature /change: KEN -> TALKCKKVIR ILKLRHMSX
Feature /domain: ECU
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 25/3/88
Relative Other affected family members: Yes; phenotype:not
Relative assessable
Diagnosis Date: 25/11/88
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Anemia
Symptoms Autoimmune manifestations
Symptoms Other clinical manifestations
Symptoms Other clinical features: Red cell aplasia at dx
Treatment IVIG: Constant
Treatment date started: 15/11/88
Treatment Still on IVIG, dose: 500mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment responding to neutropenia: marginal
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Lymphocytes Lymphocytes
Lymphocytes most recent: 15/1/95
Lymphocytes total lymphocytes: 5760/mm3
//
ID E108X(1); standard; MUTATION; ECU
Accession C0204
Systematic name g.7213G>T, c.322G>T, r.322g>u, p.Glu108X
Original code Patient 1
Description A point mutation in the exon 3 leading to a premature stop
Description codon in the ECU domain
Date 26-Aug-2005 (Rel. 3, Created)
Date 26-Aug-2005 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15623492
RefAuthors Prasad, M. L., Velickovic, M., Weston, S. A., Benson, E.
RefAuthors M.
RefTitle Mutational screening of the CD40 ligand (CD40L) gene in
RefTitle patients with X linked hyper-igM syndrome (XHIM) and
RefTitle determination of carrier status in female relatives.
RefLoc J Clin Pathol 58:90-92 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 7213
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 378
Feature /codon: gaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 108
Feature /change: E -> X
Feature /domain: ECU
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Australian
//
ID #E108X127(1); standard; MUTATION; ECU
Accession C0162
Systematic name g.7214delA, c.323delA, r.323dela, p.Asn109fsX19
Original code Patient 18
Description A frame shift deletion mutation in the exon 3 leading to a
Description premature stop codon in the ECU domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 7214
Feature /change: -a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 379
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 108
Feature /change: E -> ETALKCKKVI RILKLRHMSX
Feature /domain: ECU
Sex XY
//
ID E112X(1); standard; MUTATION; ECU
Accession C0140
Systematic name g.7225G>T, c.334G>T, r.334g>u, p.Glu112X
Original code JPR
Description A point mutation in the exon 3 leading to a premature stop
Description codon in the ECU domain
Date 26-Apr-2004 (Rel. 3, Created)
Date 26-Apr-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12952351
RefAuthors Garcia-Perez, M. A., Paz-Artal, E., Corell, A., Moreno,
RefAuthors A., Lopez-Goyanes, A., Garcia-Martin, F., Vazquez, R.,
RefAuthors Pacho, A., Romo, E., Allende, L. M.
RefTitle Mutations of CD40 ligand in two patients with hyper-igM
RefTitle syndrome.
RefLoc Immunobiology 207:285-294 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 7225
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 390
Feature /codon: gaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 112
Feature /change: E -> X
Feature /domain: ECU
Sex XY
Ethnic origin Caucasoid; Spain
Symptoms Gastro-intestinal tract manifestations
Symptoms Oral ulcers
Symptoms Hematological abnormalities
Symptoms Neutropenia: cyclic
Symptoms Other clinical features: herpetic infections, cholangitis,
Symptoms stomatitis, granulocytic hyperplasia
Treatment IVIG: constant
Treatment Still on IVIG
Treatment responding to neutropenia: good
Treatment Bone marrow transplatation: Yes
Treatment Donor: matched sibling
Treatment Outcome
Treatment BMT-related problems: chronic GvHD, skin lesions that
Treatment resemble scleroderma
//
ID G116R(1); standard; MUTATION; ECU
Accession C0007
Systematic name g.7237G>C, c.402G>C, p.G116R
Description Point mutation in the exon 3 leading to an amino acid
Description change in the ECU domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (12-Feb-1996) to CD40Lbase.
RefLoc A., Fasth, Goteborg, Sweden
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 7237
Feature /change: g -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 402
Feature /codon: ggt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116
Feature /change: G -> R
Feature /domain: ECU
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 14/4/94
Diagnosis Date: 16/11/94
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: PCP, CMV
Symptoms Other clinical features: Chronic cmv
Treatment IVIG: Constant
Treatment date started: 16/11/94
Treatment Still on IVIG, dose: 400mg/Kg/ 4 weeks
Treatment responding to infection: marginal
Treatment responding to serum IgM levels: good
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment antibiotics: constant
Treatment Ganciclovir: constant
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 31/10/94
IgA 0 mg/dL
IgG 0,3 mg/dL
IgM 1,7 mg/dL
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Blood group: A+
Response Isoagglutinins: anti-B: 0
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 10/11/94
Lymphocytes total lymphocytes: 9630/mm3
Lymphocytes total CD4: 4800/mm3
Lymphocytes total CD8: 1200/mm3
Lymphocytes total B: 3100/mm3
Lymphocytes most recent: 12/12/95
Lymphocytes total lymphocytes: 8300/mm3
Lymphocytes total CD4: 4800/mm3
Lymphocytes total CD8: 1900/mm3
Lymphocytes total B: 910/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 12/12/95: normal
Lymphocytes anti-CD3, date: 12/12/95: low
Lymphocytes antigens, date: 12/12/95: low
Lymphocytes alloantigens: not done
//
ID G116S(1); standard; MUTATION; ECU
Accession C0131
Systematic name g.7237G>A, c.402G>A, p.G116S
Original code AM
Description Point mutation in the exon 3 leading to skipping of exon 3
Date 07-Apr-2003 (Rel. 3, Created)
Date 07-Apr-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper igM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 7237
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 345..402
Feature /change: -gatataatgt taaacaaaga ggagacgaag aaagaaaaca
Feature /change: gctttgaaat gcaaaaag
Feature /note: exon 3 skipping
Feature /note: also wild type mRNA detected
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 97..116
Feature /change: DIMLNKEETK KENSFEMQKG -> VIRILKLRHM SX
Feature /domain: ECU
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Caucasoid
Treatment IVIG: constant
Treatment Still on IVIG
//
ID A123E(1); standard; MUTATION; TNFH
Accession C0045
Systematic name g.9184C>A, c.424C>A, p.A123E
Description Point mutation in the exon 4 leading to an amino acid
Description change in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc A., Fischer, Paris, France
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9184
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 424
Feature /codon: gcg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 123
Feature /change: A -> E
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 15/6/94
Relative Other affected family members: Yes; phenotype:not
Relative assessable
Diagnosis Date: 15/8/94
Status quo Alive
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: PCP
Symptoms Other clinical features: Hemophilia a
Treatment IVIG: Constant
Treatment date started: 15/9/94
Treatment Still on IVIG, dose: 200mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment Prophylactic medication
Treatment antibiotics: never
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 15/8/94
IgA 0 mg/dL
IgE 0 kU/L
IgG 2 mg/dL
IgM 0,5 mg/dL
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Isoagglutinins: anti-A: 0; anti-B: 0
Lymphocytes Lymphocytes
Lymphocytes at diagnosis:
Lymphocytes total B: 0/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA: normal
Lymphocytes anti-CD3: normal
Lymphocytes antigens: normal
Lymphocytes alloantigens: not done
//
ID A123E(2); standard; MUTATION; TNFH
Accession C0046
Systematic name g.9184C>A, c.424C>A, p.A123E
Description Point mutation in the exon 4 leading to an amino acid
Description change in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc A., Fischer, Paris, France
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9184
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 424
Feature /codon: gcg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 123
Feature /change: A -> E
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 15/6/82
Relative Other affected family members: Yes
Diagnosis Date: 15/6/82
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Liver/biliary tract abnormalities
Symptoms Hepatitis
Symptoms HCV
Symptoms Hematological abnormalities
Symptoms Neutropenia: intermittent
Symptoms Other clinical features: Hemophilia a
Treatment IVIG: Constant
Treatment date started: 15/6/84
Treatment Still on IVIG, dose: 200mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment responding to neutropenia: good
Treatment responding to serum IgM levels: good
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment antibiotics: intermittent
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 1/1/84
IgA 0 mg/dL
IgG 0 mg/dL
IgM 9 mg/dL
Response Antibody responses
Response Isoagglutinins: anti-A: 0; anti-B: 0
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA: normal
Lymphocytes anti-CD3: normal
Lymphocytes antigens: normal
Lymphocytes alloantigens: not done
//
ID A123E(3); standard; MUTATION; TNFH
Accession C0206
Systematic name g.9184C>A, c.368C>A, r.368c>a, p.Ala123Glu
Original code Patient 3
Description A point mutation in the exon 4 leading to an amino acid
Description change in the TNFH domain
Date 26-Aug-2005 (Rel. 3, Created)
Date 26-Aug-2005 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15623492
RefAuthors Prasad, M. L., Velickovic, M., Weston, S. A., Benson, E.
RefAuthors M.
RefTitle Mutational screening of the CD40 ligand (CD40L) gene in
RefTitle patients with X linked hyper-igM syndrome (XHIM) and
RefTitle determination of carrier status in female relatives.
RefLoc J Clin Pathol 58:90-92 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9184
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 424
Feature /codon: gcg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 123
Feature /change: A -> E
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Australian
//
ID A123E(4); standard; MUTATION; TNFH
Accession C0238
Systematic name g.9184C>A, c.368C>A, r.368c>a, p.Ala123Glu
Original code 4
Description A point mutation in the exon 4 leading to an amino acid
Description change in the TNFH domain
Date 21-Apr-2008 (Rel. 1, Created)
Date 21-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17351759
RefAuthors Danielian, S., Oleastro, M., Eva Rivas, M., Cantisano, C.,
RefAuthors Zelazko, M.
RefTitle Clinical follow-up of 11 argentinian CD40L-deficient
RefTitle patients with 7 unique mutations including the so-
RefTitle called 'milder' mutants.
RefLoc J Clin Immunol:455-459 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9184
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 424
Feature /codon: gcg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 123
Feature /change: A -> E
Feature /domain: TNFH
Status quo Alive
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms CNS Infections
Symptoms Encephalitis
Sex XY
Ethnic origin Argentina
Protein CD40L mutation
IgA <7 mg/dl
IgG 88 mg/dl
IgM 32 mg/dl
//
ID #A123X127(1); standard; MUTATION; TNFH
Accession C0069
Systematic name g.9183delG, c.423delG, p.A123fsX127
Description Deletion in the exon 4 leading to a premature stop codon
Description in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (26-May-1996) to CD40Lbase.
RefLoc A., Jones, London, UK
RefNumber [2]
RefCrossRef PUBMED; 8889581
RefAuthors Katz, F., Hinshelwood, S., Rutland, P., Jones, A., Kinnon,
RefAuthors C., Morgan, G.
RefTitle Mutation analysis in CD40 ligand deficiency leading to
RefTitle X-linked hypogammaglobulinemia with hyper IgM syndrome.
RefLoc Hum Mutat 8:223-228 (1996)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 9183
Feature /change: -g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 423
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 123
Feature /change: A -> RHMSX
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 3/6/84
Diagnosis Date: 15/12/84
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Gastro-intestinal tract manifestations
Symptoms Oral ulcers
Symptoms Protracted diarrhea
Symptoms Cryptosporidium
Symptoms Bacterial: Flavobacterium meningosepticum salmonella
Symptoms Liver/biliary tract abnormalities
Symptoms Hepatitis
Symptoms Unknown
Symptoms Hematological abnormalities
Symptoms Neutropenia: intermittent
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: Not searched
Symptoms Anti-neutrophil antibodies: Not searched
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: Not searched
Symptoms Other clinical features: Mild chronic active hepatitis,
Symptoms ftt
Treatment IVIG: Constant
Treatment date started: 15/11/90
Treatment Still on IVIG, dose: 500mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment responding to neutropenia: good
Treatment responding to serum IgM levels: marginal
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment G-CSF: intermittent
Treatment Effect on neutrophil count: good
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 25/5/94
IgA 0,02 mg/dL
IgE 15,3 kU/L
IgG 16,5 mg/dL
IgM 1,63 mg/dL
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Other: not done
Response Blood group: A+
Response Isoagglutinins: anti-B: 0,25
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 6/7/90
Lymphocytes total lymphocytes: 2959/mm3
Lymphocytes total CD4: 1750/mm3
Lymphocytes total CD8: 600/mm3
Lymphocytes total B: 390/mm3
Lymphocytes most recent: 3/8/94
Lymphocytes total lymphocytes: 3220/mm3
Lymphocytes total CD4: 1770/mm3
Lymphocytes total CD8: 805/mm3
Lymphocytes total B: 364/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 21/5/94: normal
Lymphocytes anti-CD3: not done
Lymphocytes antigens: low
//
ID H125R(1); standard; MUTATION; TNFH
Accession C0071
Systematic name g.9190A>G, c.430A>G, p.H125R
Description Point mutation in the exon 4 leading to an amino acid
Description change in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (26-May-1996) to CD40Lbase.
RefLoc A., Jones, London, UK
RefNumber [2]
RefCrossRef PUBMED; 8889581
RefAuthors Katz, F., Hinshelwood, S., Rutland, P., Jones, A., Kinnon,
RefAuthors C., Morgan, G.
RefTitle Mutation analysis in CD40 ligand deficiency leading to
RefTitle X-linked hypogammaglobulinemia with hyper IgM syndrome.
RefLoc Hum Mutat 8:223-228 (1996)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9190
Feature /change: a -> g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 430
Feature /codon: cat -> cgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 125
Feature /change: H -> R
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 9/9/87
Diagnosis Date: 15/4/88
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: cause unknown
Symptoms CNS Infections
Symptoms Encephalitis: Encephalopathy unknown cause slow virus ?
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: No
Symptoms Anti-neutrophil antibodies: Not searched
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: Not searched
Symptoms Other clinical features: Unexpained encephalopathy with
Symptoms ataxia,seizures and right emiparesis
Treatment IVIG: Constant
Treatment date started: 15/6/94
Treatment Still on IVIG, dose: 400mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Blood group: O+
Response Isoagglutinins: anti-A: 0,016; anti-B: 0,5
Lymphocytes Lymphocytes
Lymphocytes most recent: 15/9/93
Lymphocytes total lymphocytes: 2870/mm3
Lymphocytes total CD4: 1590/mm3
Lymphocytes total CD8: 462/mm3
Lymphocytes total B: 578/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 20/1/93: normal
Lymphocytes anti-CD3: not done
Lymphocytes antigens: normal
Lymphocytes alloantigens: not done
//
ID V126A(1); standard; MUTATION; TNFH
Accession C0062
Systematic name g.9193T>C, c.433T>C, p.V126A
Description Point mutation in the exon 4 leading to an amino acid
Description change in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc L., Gomez, Moscow, Russia
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9193
Feature /change: t -> c
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 433
Feature /codon: gtc -> gcc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 126
Feature /change: V -> A
Feature /domain: TNFH
Protein CD40L mutation
Date of birth 29/9/78
Diagnosis Date: 15/4/96
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Unknown etiology
Symptoms Autoimmune manifestations
Symptoms Arthritis
Symptoms Other clinical features: Synusitis lymphadenitis frozen
Symptoms plasma 20 ml/kg/4w
Treatment IVIG: Constant
Treatment date started: 5/5/94
Treatment Still on IVIG
Treatment responding to infection: good
Treatment Prophylactic medication
Treatment antibiotics: never
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 15/4/94
IgA 0 mg/dL
IgG 0,25 mg/dL
IgM 1,73 mg/dL
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Blood group: O+
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 13/5/94
Lymphocytes total lymphocytes: 1368/mm3
Lymphocytes total CD4: 575/mm3
Lymphocytes total CD8: 979/mm3
Lymphocytes total B: 164/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA: not done
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
//
ID V126D(1); standard; MUTATION; TNFH
Accession C0048
Systematic name g.9193C>A, c.433C>A, p.V126D
Description Point mutation in the exon 4 leading to an amino acid
Description change in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc M., Munzer, Reims, France
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9193
Feature /change: t -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 433
Feature /codon: gtc -> gac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 126
Feature /change: V -> D
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 30/5/91
Diagnosis Date: 21/1/92
Status quo Deceased
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: PCP
Symptoms Gastro-intestinal tract manifestations
Symptoms Oral ulcers
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: Not searched
Symptoms Anti-neutrophil antibodies: Not searched
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: No
Treatment IVIG: Constant
Treatment date started: 21/1/92
Treatment Still on IVIG, dose: 300mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment responding to neutropenia: no effect
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 21/1/92
IgA 0,06 mg/dL
IgE 1 kU/L
IgG 0,06 mg/dL
IgM 0,8 mg/dL
Response Antibody responses
Response D/T: absent
Response PPS: not done
Response HiB: not done
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 26/4/93
Lymphocytes total lymphocytes: 6200/mm3
Lymphocytes total CD4: 4464/mm3
Lymphocytes total CD8: 2542/mm3
Lymphocytes total B: 1364/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 17/1/92: normal
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
//
ID V126D(2); standard; MUTATION; TNFH
Accession C0245
Systematic name g.9193T>A, c.377T>A, r.377u>a, p.Val126Asp
Original code P3
Description A point mutation in the exon 4 leading to an amino acid
Description change in the TNFH domain
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19170966
RefAuthors Rangel-Santos, A., Wakim, V. L., Jacob, C. M., Pastorino,
RefAuthors A. C., Cunha, J. M., Collanieri, A. C., Niemela, J. E.,
RefAuthors Grumach, A. S., Duarte, A. J., Moraes-Vasconcelos, D.,
RefAuthors Oliveira, J. B.
RefTitle Molecular characterization of patients with X-linked hyper-
RefTitle igM syndrome: description of two novel CD40L mutations.
RefLoc Scand J Immunol:169-173 (2009)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9193
Feature /change: t -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 433
Feature /codon: gtc -> gac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 126
Feature /change: V -> D
Feature /domain: TNFH
Ethnic origin Brazil
//
ID @V126X129(1); standard; MUTATION; TNFH
Accession C0018
Systematic name g.9192_9193insA, c.432_433insA, p.V126fsX129
Description Insertion in the exon 4 leading to a premature stop codon
Description in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (14-Aug-1997) to CD40Lbase.
RefLoc A., Fasth, Goteborg, Sweden
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0015: 9193
Feature /change: +a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 433
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 126
Feature /change: V -> DHKX
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 16/3/96
Diagnosis Date: 15/9/96
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: PCP
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Unknown etiology
Treatment IVIG: Constant
Treatment date started: 15/9/96
Treatment Still on IVIG, dose: 500mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment responding to serum IgM levels: good
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 15/3/96
IgA 0,05 mg/dL
IgE 5 kU/L
IgG 1,5 mg/dL
IgM 0,71 mg/dL
Lymphocytes Lymphocytes
Lymphocytes most recent: 16/12/96
Lymphocytes total lymphocytes: 2500/mm3
Lymphocytes total CD4: 1800/mm3
Lymphocytes total CD8: 1200/mm3
Lymphocytes total B: 400/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 16/12/96: normal
Lymphocytes anti-CD3, date: 16/12/96: low
Lymphocytes antigens, date: 16/12/96: normal
Lymphocytes alloantigens: not done
//
ID @I127X129(1); standard; MUTATION; TNFH
Accession C0111
Systematic name g.9196_9197insAA, c.436_437insAA, p.I127fsX129
Original code FY
Description Insertion in the exon 4 leading to a premature stop codon
Description in the TNFH domain
Date 26-Jun-2002 (Rel. 3, Created)
Date 26-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7717401
RefAuthors Macchi, P., Villa, A., Strina, D., Sacco, M. G., Morali,
RefAuthors F., Brugnoni, D., Giliani, S., Mantuano, E., Fasth, A.,
RefAuthors Andersson, B.
RefTitle Characterization of nine novel mutations in the CD40
RefTitle ligand gene in patients with X-linked hyper IgM syndrome
RefTitle of various ancestry.
RefLoc Am J Hum Genet 56:898-906 (1995)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0015: 9197
Feature /change: a -> aa
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 437
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 127
Feature /change: I -> IKX
Feature /domain: TNFH
Protein CD40L mutation
Sex XY
Symptoms Gastro-intestinal tract manifestations
Symptoms Oral ulcers
Symptoms Liver/biliary tract abnormalities
Symptoms Cirrhosis
Symptoms Hematological abnormalities
Symptoms Neutropenia
Treatment IVIG: constant
IgG 1.20 mg/dL
IgM 7.92 mg/dL
//
ID S128R/E129G(1); standard; MUTATION; TNFH
Accession C0203
Systematic name g.9200T>A;g.9202A>G, c.384T>A;c.386A>G, r.384u>a;r.386a>g,
Systematic name p.Ser128Arg;p.Glu129Gly
Original code CD
Description Two point mutations in the exon 4 leading to an amino acid
Description changes in the TNFH domain
Date 26-Aug-2005 (Rel. 3, Created)
Date 26-Aug-2005 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7678782
RefAuthors Aruffo, A., Farrington, M., Hollenbaugh, D., Li, X.,
RefAuthors Milatovich, A., Nonoyama, S., Bajorath, J., Grosmaire, L.
RefAuthors S., Stenkamp, R., Neubauer, M.
RefTitle The CD40 ligand, gp39, is defective in activated T cells
RefTitle from patients with X-linked hyper-igM syndrome.
RefLoc Cell 72:291-300 (1993)
RefNumber [2]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper igM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9200
Feature /change: t -> a
Feature /genomic_region: exon; 4
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9202
Feature /change: a -> g
Feature /genomic_region: exon; 4
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 440
Feature /codon: agt -> aga; 3
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 442
Feature /codon: gag -> ggg; 2
Feature aa; 5
Feature /rnalink: 3
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 128
Feature /change: S -> R
Feature /domain: TNFH
Feature aa; 6
Feature /rnalink: 4
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 129
Feature /change: E -> G
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Caucasoid
//
ID @S128X129(1); standard; MUTATION; TNFH
Accession C0063
Systematic name g.9197_9198insA, c.437_438insA, p.S128fsX129
Description Insertion in the exon 4 leading to a premature stop codon
Description in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc J., Levi, Beer, Sheva, Israel
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0015: 9198
Feature /change: +a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 438
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 128
Feature /change: S -> KX
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 27/6/71
Relative Other affected family members: Yes; phenotype:not
Relative assessable
Diagnosis Date: 11/8/85
Status quo Alive
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Gastro-intestinal tract manifestations
Symptoms Oral ulcers
Symptoms Protracted diarrhea
Symptoms Other: Giardia
Symptoms Liver/biliary tract abnormalities
Symptoms Hepatitis
Symptoms HBV
Symptoms Cirrhosis
Symptoms Hematological abnormalities
Symptoms Neutropenia: intermittent
Symptoms Anemia
Symptoms Autoimmune manifestations
Symptoms Arthritis
Symptoms Anti-nuclear antibodies: No
Symptoms Anti-neutrophil antibodies: No
Symptoms Tumors
Symptoms Type: Pnet at colon hcc
Symptoms date of diagnosis: 20/11/93
Symptoms Treatment: Surgery chemotheraphy
Symptoms Outcome: Death
Symptoms Other clinical features: Lymphoadenopathy
Treatment IVIG: Constant
Treatment date started: 15/2/87
Treatment Still on IVIG, dose: 400mg/Kg/ 4 weeks
Treatment responding to infection: good
Treatment responding to neutropenia: good
Treatment responding to serum IgM levels: no effect
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment G-CSF: intermittent
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 11/8/85
IgA 0 mg/dL
IgG 1,62 mg/dL
IgM 7,77 mg/dL
Response Antibody responses
Response D/T, date: 12/3/90: low
Response PPS, date: 12/3/90: absent
Response HiB, date: 12/3/90: absent
Response Blood group: O+
Response Isoagglutinins: anti-A: 1; anti-B: 1
Lymphocytes Lymphocytes
Lymphocytes at diagnosis:
Lymphocytes total lymphocytes: 4480/mm3
Lymphocytes total CD4: 1392/mm3
Lymphocytes total CD8: 928/mm3
Lymphocytes total B: 1344/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 12/3/90: normal
Lymphocytes anti-CD3: not done
Lymphocytes antigens: normal
Lymphocytes alloantigens: not done
//
ID @S128X129(2); standard; MUTATION; TNFH
Accession C0114
Systematic name g.9197_9198insG, c.437_438insG, p.S128fsX129
Original code Subject 5
Description Insertion in the exon 4 leading to a premature stop codon
Description in the TNFH domain
Date 25-Jul-2002 (Rel. 3, Created)
Date 25-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8550833
RefAuthors Lin, Q., Rohrer, J., Allen, R. C., Larche, M., Greene, J.
RefAuthors M., Shigeoka, A. O., Gatti, R. A., Derauf, D. C., Belmont,
RefAuthors J. W., Conley, M. E.
RefTitle A single strand conformation polymorphism study of CD40
RefTitle ligand. efficient mutation analysis and carrier detection
RefTitle for X-linked hyper IgM syndrome.
RefLoc J Clin Invest 97:196-201 (1996)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0015: 9198
Feature /change: +g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 438
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 128
Feature /change: S -> EX
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Relative Description of pedigree:inherited
//
ID @S128X129(3); standard; MUTATION; TNFH
Accession C0118
Systematic name g.9197_9198insG, c.437_438insG, p.S128fsX129
Original code MR
Description Insertion in the exon 4 leading to a premature stop codon
Description in the TNFH domain
Date 26-Jul-2002 (Rel. 3, Created)
Date 26-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0015: 9198
Feature /change: +g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 438
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 128
Feature /change: S -> EX
Feature /domain: TNFH
Protein CD40L mutation
Sex XY
Ethnic origin Caucasoid
Treatment IVIG: constant
//
ID @S128X129(4); standard; MUTATION; TNFH
Accession C0119
Systematic name g.9197_9198insG, c.437_438insG, p.S128fsX129
Original code JG
Description Insertion in the exon 4 leading to a premature stop codon
Description in the TNFH domain
Date 26-Jul-2002 (Rel. 3, Created)
Date 26-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0015: 9198
Feature /change: +g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 438
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 128
Feature /change: S -> EX
Feature /domain: TNFH
Protein CD40L mutation
Sex XY
Ethnic origin Caucasoid
Status quo Alive
Treatment IVIG: constant
//
ID @S132X133(1); standard; MUTATION; TNFH
Accession C0170
Systematic name g.9211_9212insA, c.395_396insA, r.395_396insa, p.Ser132fsX2
Original code Patient 34
Description A frame shift insertion mutation in the exon 4 leading to a
Description premature stop codon in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0015: 9212
Feature /change: +a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 452
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 132
Feature /change: S -> RX
Feature /domain: TNFH
Sex XY
//
ID #V137X145(1); standard; MUTATION; TNFH
Accession C0047
Systematic name g.9225_9234delGTGTTACAGT, c.465_474delGTGTTACAGT, p.V137fsX145
Description Deletion in the exon 4 leading to a premature stop codon
Description in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc C., Thomas, Alain, Fischer
RefNumber [2]
RefCrossRef PUBMED; 7542361
RefAuthors Thomas, C., de Saint Basile, G., Le Deist, F., Theophile,
RefAuthors D., Benkerrou, M., Haddad, E., Blanche, S., Fischer, A.
RefTitle Brief report: correction of X-linked hyper-IgM syndrome by
RefTitle allogeneic bone marrow transplantation.
RefLoc N Engl J Med 333:426-429 (1995)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 9225..9234
Feature /change: -gtgttacagt
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 465..474
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 137..140
Feature /change: VLQW -> GLKKDTTPX
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 15/6/93
Relative Other affected family members: Yes; phenotype:same
Diagnosis Date: 15/11/93
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: PCP
Symptoms Hematological abnormalities
Symptoms Neutropenia: intermittent
Symptoms Anemia
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: No
Symptoms Anti-neutrophil antibodies: No
Symptoms Anti-platelet antibodies: No
Symptoms Coombs positivity: No
Treatment IVIG: Constant
Treatment date started: 15/8/93
Treatment Still on IVIG, dose: 200mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment antibiotics: intermittent
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment Bone marrow transplatation: Yes: Date: 8/12/93
Treatment Donor: matched sibling
Treatment Source: full marrow
Treatment Outcome: alive and well
Treatment T-cell chimerism: donor
Immunoglobulins date (closest to diagnosis): 15/9/93
IgA 0,07 mg/dL
IgE 1 kU/L
IgG 0,53 mg/dL
IgM 0,58 mg/dL
Response Antibody responses
Response D/T: absent
Response PPS: not done
Response HiB: not done
Response Polio: absent
Response Isoagglutinins: anti-A: 1
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA: normal
Lymphocytes anti-CD3: normal
Lymphocytes antigens: normal
//
ID #V137X145(2); standard; MUTATION; TNFH
Accession C0064
Systematic name g.9225del, c.465del, p.V137V
Description Deletion in the exon 4 leading to an amino acid change in
Description the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc A., Fischer, Paris, France
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 9225..9234
Feature /change: -gtgttacagt
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 465..474
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 137..140
Feature /change: VLQW -> GLKKDTTPX
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 15/11/84
Relative Other affected family members: Yes; phenotype:same
Diagnosis Date: 1/1/85
Status quo Alive
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: PCP
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Cryptosporidium
Symptoms Liver/biliary tract abnormalities
Symptoms Sclerosing cholangitis
Symptoms Cryptosporidium
Symptoms Cirrhosis
Symptoms Hematological abnormalities
Symptoms Neutropenia
Symptoms Anemia
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: No
Symptoms Anti-neutrophil antibodies: No
Symptoms Anti-platelet antibodies: No
Symptoms Coombs positivity: No
Symptoms Other clinical features: Liver tx 1995
Treatment IVIG: Constant
Treatment Still on IVIG, dose: 200mg/Kg/ 3 weeks
Treatment responding to serum IgM levels: good
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment antibiotics: intermittent
Treatment G-CSF: intermittent
Treatment Effect on neutrophil count: good
Treatment Total parental nutrition: Yes. Still on TPN
Treatment Bone marrow transplatation: Yes: Date: 15/6/96
Treatment Donor: MUD
Treatment Outcome
Treatment BMT-related problems: death, acute GvHD grade >3, liver
Treatment disease, Cryptosporidium diarrhea elevated ggt and
Treatment transaminasis portal thrombosis biliary sthenosis
Treatment reoperated
IgA 0,03 mg/dL
IgG 0,3 mg/dL
IgM 10,4 mg/dL
Response Antibody responses
Response D/T: absent
Lymphocytes Lymphocytes
Lymphocytes at diagnosis:
Lymphocytes total lymphocytes: 3900/mm3
Lymphocytes total CD4: 2340/mm3
Lymphocytes total CD8: 624/mm3
Lymphocytes total B: 320/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 15/6/95: normal
Lymphocytes anti-CD3, date: 15/6/95: normal
Lymphocytes antigens, date: 15/6/95: normal
Lymphocytes alloantigens, date: 15/6/95: normal
//
ID #V137X145(3); standard; MUTATION; TNFH
Accession C0065
Systematic name g.9225del, c.465del, p.V137V
Description Deletion in the exon 4 leading to an amino acid change in
Description the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc A., Fischer, Paris, France
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 9225..9234
Feature /change: -gtgttacagt
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 465..474
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 137..140
Feature /change: VLQW -> GLKKDTTPX
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 15/6/92
Relative Other affected family members: Yes; phenotype:same
Diagnosis Date: 1/1/93
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Treatment IVIG: Constant
Treatment Still on IVIG, dose: 200mg/Kg/ 3 weeks
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 1/1/93
IgA 0 mg/dL
IgG 1 mg/dL
IgM 0,32 mg/dL
Lymphocytes Lymphocytes
Lymphocytes at diagnosis:
Lymphocytes total lymphocytes: 7000/mm3
Lymphocytes total CD4: 5180/mm3
Lymphocytes total CD8: 1120/mm3
Lymphocytes total B: 140/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA: normal
Lymphocytes anti-CD3: normal
Lymphocytes antigens: normal
//
ID #V137X145(4); standard; MUTATION; TNFH
Accession C0066
Systematic name g.9225del, c.465del, p.V137V
Description Deletion in the exon 4 leading to an amino acid change in
Description the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc A., Fischer, Paris, France
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 9225..9234
Feature /change: -gtgttacagt
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 465..474
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 137..140
Feature /change: VLQW -> GLKKDTTPX
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 15/6/94
Relative Other affected family members: Yes; phenotype:same
Diagnosis Date: 15/10/94
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: No
Symptoms Anti-neutrophil antibodies: No
Symptoms Anti-platelet antibodies: No
Symptoms Coombs positivity: No
Treatment IVIG: Constant
Treatment date started: 1/9/95
Treatment Still on IVIG, dose: 200mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 15/6/96
IgA 0,2 mg/dL
IgE 1 kU/L
IgG 1,9 mg/dL
IgM 0,3 mg/dL
Lymphocytes Lymphocytes
Lymphocytes at diagnosis:
Lymphocytes total lymphocytes: 15800/mm3
Lymphocytes total CD4: 8532/mm3
Lymphocytes total CD8: 4180/mm3
Lymphocytes total B: 474/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA: normal
Lymphocytes anti-CD3: normal
Lymphocytes antigens: normal
Lymphocytes alloantigens: not done
//
ID @V137+4(1a); standard; MUTATION; TNFH
Accession C0200
Original code Patient 72 a
Description 12 bp inframe insertion between intron 4 and exon 5
Description in the TNFH domain
Date 15-Nov-2004 (Rel. 3, Created)
Date 15-Nov-2004 (Rel. 3, Last updated, Version 1)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0015: 11846
Feature /change: +12 bp
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe insertion
Feature /loc: IDRefSeq: C0015: 466
Feature aa; 3
Feature /rnalink: 2
Feature /name: insertion; inframe
Feature /loc: UniProt: P29965; CD40L_HUMAN: 137
Feature /change: +4 aa
Feature /domain: TNFH
Sex XY
Relative CD40Lbase; C0201
//
ID @V137+4(1b); standard; MUTATION; TNFH
Accession C0201
Original code Patient 72 b
Description 12 bp inframe insertion between intron 4 and exon 5
Description in the TNFH domain
Date 15-Nov-2004 (Rel. 3, Created)
Date 15-Nov-2004 (Rel. 3, Last updated, Version 1)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0015: 11846
Feature /change: +12 bp
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe insertion
Feature /loc: IDRefSeq: C0015: 466
Feature aa; 3
Feature /rnalink: 2
Feature /name: insertion; inframe
Feature /loc: UniProt: P29965; CD40L_HUMAN: 137
Feature /change: +4 aa
Feature /domain: TNFH
Sex XY
Relative CD40Lbase; C0200
//
ID @V137+3(1); standard; MUTATION; TNFH
Accession C0202
Original code Patient 73
Description 9 bp inframe insertion between intron 4 and exon 5
Description in the TNFH domain
Date 15-Nov-2004 (Rel. 3, Created)
Date 15-Nov-2004 (Rel. 3, Last updated, Version 1)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0015: 11846
Feature /change: +9 bp
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe insertion
Feature /loc: IDRefSeq: C0015: 466
Feature aa; 3
Feature /rnalink: 2
Feature /name: insertion; inframe
Feature /loc: UniProt: P29965; CD40L_HUMAN: 137
Feature /change: +3 aa
Feature /domain: TNFH
Sex XY
//
ID Q139X(1); standard; MUTATION; TNFH
Accession C0173
Systematic name g.11851C>T, c.415C>T, r.415c>u, p.Gln139X
Original code Patient 39
Description A point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11851
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 471
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 139
Feature /change: Q -> X
Feature /domain: TNFH
Sex XY
//
ID W140C(2); standard; MUTATION; TNFH
Accession C0208
Systematic name g.11856G>T, c.420G>T, r.420g>u, p.Trp140Cys
Original code Patient 5
Description A point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 26-Aug-2005 (Rel. 3, Created)
Date 26-Aug-2005 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15623492
RefAuthors Prasad, M. L., Velickovic, M., Weston, S. A., Benson, E.
RefAuthors M.
RefTitle Mutational screening of the CD40 ligand (CD40L) gene in
RefTitle patients with X linked hyper-igM syndrome (XHIM) and
RefTitle determination of carrier status in female relatives.
RefLoc J Clin Pathol 58:90-92 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11856
Feature /change: g -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 476
Feature /codon: tgg -> tgt; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 140
Feature /change: W -> C
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Australian
//
ID W140G(1); standard; MUTATION; TNFH
Accession C0070
Original code B.W.
Systematic name g.11854T>G, c.474T>G, p.W140G
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (26-May-1996) to CD40Lbase.
RefLoc A., Jones, London, UK
RefNumber [2]
RefCrossRef PUBMED; 7679206
RefAuthors Korthauer, U., Graf, D., Mages, H. W., Briere, F.,
RefAuthors Padayachee, M., Malcolm, S., Ugazio, A. G., Notarangelo,
RefAuthors L. D., Levinsky, R. J., Kroczek, R. A.
RefTitle Defective expression of T-cell CD40 ligand causes X-linked
RefTitle immunodeficiency with hyper-IgM.
RefLoc Nature 361:539-541 (1993)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11854
Feature /change: t -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 474
Feature /codon: tgg -> ggg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 140
Feature /change: W -> G
Feature /domain: TNFH
Protein CD40L mutation
Date of birth 4/9/88
Diagnosis Date: 15/4/89
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: PCP
Symptoms Sepsis
Symptoms Bacterial: E.coli central venous portacath
Treatment IVIG: Constant
Treatment date started: 15/4/89
Treatment Still on IVIG, dose: 400mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 24/3/89
IgA 0,01 mg/dL
IgE 3 kU/L
IgG 4,3 mg/dL
IgM 0,52 mg/dL
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 28/3/89
Lymphocytes total lymphocytes: 2900/mm3
Lymphocytes total CD4: 1218/mm3
Lymphocytes total CD8: 406/mm3
Lymphocytes total B: 850/mm3
Lymphocytes most recent: 10/9/91
Lymphocytes total lymphocytes: 4280/mm3
Lymphocytes total CD4: 2566/mm3
Lymphocytes total CD8: 1070/mm3
Lymphocytes total B: 300/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 3/5/91: normal
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
//
ID W140G(2); standard; MUTATION; TNFH
Accession C0142
Systematic name g.11854T>G, c.418T>G, r.418u>g, p.Trp140Gly
Original code patient 17
Description A point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14514918
RefAuthors Gilmour, K. C., Walshe, D., Heath, S., Monaghan, G.,
RefAuthors Loughlin, S., Lester, T., Norbury, G., Cale, C. M.
RefTitle Immunological and genetic analysis of 65 patients with a
RefTitle clinical suspicion of X linked hyper-igM.
RefLoc Mol Pathol 56:256-262 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11854
Feature /change: t -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 474
Feature /codon: tgg -> ggg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 140
Feature /change: W -> G
Feature /domain: TNFH
Date of birth 1972
Sex XY
//
ID W140R(1); standard; MUTATION; TNFH
Accession C0031
Systematic name g.11854T>C, c.474T>C, p.W140R
Original code RG
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (6-May-1996) to CD40Lbase.
RefLoc I., Resnick, Moscow, Russia
RefNumber [2]
RefCrossRef PUBMED; 7717401
RefAuthors Macchi, P., Villa, A., Strina, D., Sacco, M. G., Morali,
RefAuthors F., Brugnoni, D., Giliani, S., Mantuano, E., Fasth, A.,
RefAuthors Andersson, B.
RefTitle Characterization of nine novel mutations in the CD40
RefTitle ligand gene in patients with X-linked hyper IgM syndrome
RefTitle of various ancestry.
RefLoc Am J Hum Genet 56:898-906 (1995)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11854
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 474
Feature /codon: tgg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 140
Feature /change: W -> R
Feature /domain: TNFH
Protein CD40L mutation
Date of birth 25/5/88
Diagnosis Date: 1/2/94
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Gastro-intestinal tract manifestations
Symptoms Oral ulcers
Symptoms Proctitis
Symptoms Liver/biliary tract abnormalities
Symptoms Hepatitis
Symptoms HBV
Symptoms Hematological abnormalities
Symptoms Neutropenia: cyclic
Symptoms Anemia
Symptoms Autoimmune manifestations
Symptoms Arthritis
Symptoms Anti-neutrophil antibodies: No
Symptoms Other clinical features: Native plasma 20/kg/4w
Treatment IVIG: Constant
Treatment Still on IVIG
Treatment responding to infection: good
Treatment responding to neutropenia: marginal
Treatment responding to serum IgM levels: no effect
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment antibiotics: intermittent
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 11/2/94
IgA 0 mg/dL
IgE 0 kU/L
IgG 0,3 mg/dL
IgM 6,75 mg/dL
Response Antibody responses
Response Blood group: A+
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 11/2/94
Lymphocytes total lymphocytes: 3030/mm3
Lymphocytes total CD4: 1200/mm3
Lymphocytes total CD8: 840/mm3
Lymphocytes total B: 390/mm3
Lymphocytes most recent: 26/4/95
Lymphocytes total lymphocytes: 3720/mm3
Lymphocytes total CD4: 1798/mm3
Lymphocytes total CD8: 111/mm3
Lymphocytes total B: 669/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 22/2/94: low
Lymphocytes anti-CD3, date: 22/2/94: absent
Lymphocytes antigens, date: 22/2/94: not done
Lymphocytes alloantigens: not done
//
ID W140C(1); standard; MUTATION; TNFH
Accession C0097
Systematic name g.11856G>T, c.476G>T, p.W140C
Original code KO
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9150729
RefAuthors Nonoyama, S., Shimadzu, M., Toru, H., Seyama, K., Nunoi,
RefAuthors H., Neubauer, M., Yata, J., Och, H. D.
RefTitle Mutations of the CD40 ligand gene in 13 japanese patients
RefTitle with X-linked hyper-IgM syndrome.
RefLoc Hum Genet 99:624-627 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11856
Feature /change: g -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 476
Feature /codon: tgg -> tgt; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 140
Feature /change: W -> C
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Mongoloid; Japan
//
ID W140R(2); standard; MUTATION; TNFH
Accession C0109
Systematic name g.11854T>C, c.474T>C, p.W140R
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 20-Jun-2002 (Rel. 3, Created)
Date 20-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11850600
RefAuthors Jo, E. K., Kim, H. S., Lee, M. Y., Iseki, M., Lee, J. H.,
RefAuthors Song, C. H., Park, J. K., Hwang, T. J., Kook, H.
RefTitle X-linked hyper-IgM syndrome associated with
RefTitle cryptosporidium parvum and cryptococcus neoformans
RefTitle infections: the first case with molecular diagnosis in
RefTitle korea.
RefLoc J Korean Med Sci 17:116-120 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11854
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 474
Feature /codon: tgg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 140
Feature /change: W -> R
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Mongoloid; Korea
Symptoms Upper respiratory tract infections
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Cryptosporidium
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Treatment IVIG: constant
IgA 117.0 mg/dL
IgE 29.8 kU/L
IgG 291.0 mg/dL
IgM 1,220.0 mg/dL
//
ID W140X(1); standard; MUTATION; TNFH
Accession C0004
Original code T.G.
Systematic name g.11855G>A, c.475G>A, p.W140X
Description Point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (23-May-1996) to CD40Lbase.
RefLoc L., Notarangelo, Brescia, Italy
RefNumber [2]
RefCrossRef PUBMED; 7915248
RefAuthors Kroczek, R. A., Graf, D., Brugnoni, D., Giliani, S.,
RefAuthors Korthuer, U., Ugazio, A., Senger, G., Mages, H. W., Villa,
RefAuthors A., Notarangelo, L. D.
RefTitle Defective expression of CD40 ligand on T cells
RefTitle causes "X-linked immunodeficiency with hyper-IgM (HIGM1)".
RefLoc Immunol Rev 138:39-59 (1994)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11855
Feature /change: g -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 475
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 140
Feature /change: W -> X
Feature /domain: TNFH
Protein CD40L mutation
Date of birth 10/7/87
Relative Other affected family members: Yes; phenotype:same
Diagnosis Date: 20/10/88
Status quo Alive
Symptoms Upper respiratory tract infections
Symptoms Gastro-intestinal tract manifestations
Symptoms Oral ulcers
Symptoms Protracted diarrhea
Symptoms Cryptosporidium
Symptoms Inflammatory bowel disease
Symptoms Intestinal nodular hyperplasia
Symptoms Peritonitis
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Anemia
Symptoms Other clinical features: Lymphoadenopathy
Treatment IVIG: Constant
Treatment date started: 20/10/88
Treatment Still on IVIG, dose: 300mg/Kg/ 3 weeks
Treatment responding to infection: marginal
Treatment responding to neutropenia: marginal
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment antibiotics: constant
Treatment Acyclovir: constant
Treatment Ketoconazole: constant
Treatment G-CSF: never
Treatment Effect on neutrophil count: marginal
Treatment Steroids
Treatment Effect on neutropenia: marginal
Treatment Effect on oral ulcers, proctitis: marginal
Treatment Total parental nutrition: Yes. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 12/10/88
IgA 0,14 mg/dL
IgE 0,15 kU/L
IgG 1,71 mg/dL
IgM 0,85 mg/dL
Response Antibody responses
Response D/T, date: 20/10/88: low
Response Blood group: A+
Response Isoagglutinins: anti-B: 0,016
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 20/10/88
Lymphocytes total lymphocytes: 9360/mm3
Lymphocytes total CD4: 4024/mm3
Lymphocytes total CD8: 842/mm3
Lymphocytes total B: 562/mm3
Lymphocytes most recent: 22/8/89
Lymphocytes total lymphocytes: 6656/mm3
Lymphocytes total CD4: 4659/mm3
Lymphocytes total CD8: 800/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 20/10/88: normal
//
ID W140X(2); standard; MUTATION; TNFH
Accession C0005
Systematic name g.11855G>A, c.475G>A, p.W140X
Description Point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (5-Apr-1996) to CD40Lbase.
RefLoc L., Notarangelo, Brescia, Italy
RefNumber [2]
RefCrossRef PUBMED; 7679206
RefAuthors Korthauer, U., Graf, D., Mages, H. W., Briere, F.,
RefAuthors Padayachee, M., Malcolm, S., Ugazio, A. G., Notarangelo,
RefAuthors L. D., Levinsky, R. J., Kroczek, R. A.
RefTitle Defective expression of T-cell CD40 ligand causes X-linked
RefTitle immunodeficiency with hyper-IgM.
RefLoc Nature 361:539-541 (1993)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11855
Feature /change: g -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 475
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 140
Feature /change: W -> X
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 26/6/82
Relative Other affected family members: Yes; phenotype:milder
Diagnosis Date: 18/4/83
Status quo Alive
Symptoms Sepsis
Symptoms Bacterial: E.coli
Symptoms CNS Infections
Symptoms Encephalitis: Unknown
Symptoms Gastro-intestinal tract manifestations
Symptoms Oral ulcers
Symptoms Protracted diarrhea
Symptoms Cryptosporidium
Symptoms Intestinal nodular hyperplasia
Symptoms Liver/biliary tract abnormalities
Symptoms Hepatitis
Symptoms HBV
Symptoms Cirrhosis
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Anemia
Symptoms Thrombocytopenia
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: No
Symptoms Anti-neutrophil antibodies: No
Symptoms Anti-platelet antibodies: Yes
Symptoms Coombs positivity: No
Symptoms Other clinical features: Hyper eosinophilia
Treatment IVIG: Constant
Treatment date started: 26/6/84
Treatment Still on IVIG, dose: 800mg/Kg/ 2 weeks
Treatment responding to infection: good
Treatment responding to neutropenia: no effect
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment antibiotics: constant
Treatment Acyclovir: constant
Treatment G-CSF: intermittent
Treatment Effect on neutrophil count: marginal
Treatment dose: 5µg/Kg/ 0 day(s)
Treatment Steroids: never
Treatment Total parental nutrition: Yes. Still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 18/4/83
IgA 0,12 mg/dL
IgE 3 kU/L
IgG 1,2 mg/dL
IgM 1,94 mg/dL
Response Antibody responses
Response D/T, date: 27/9/93: absent
Response Blood group: O+
Response Isoagglutinins: anti-A: 0,25; anti-B: 0,12
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 18/4/83
Lymphocytes total lymphocytes: 22400/mm3
Lymphocytes total CD4: 4480/mm3
Lymphocytes total CD8: 5600/mm3
Lymphocytes total B: 3804/mm3
Lymphocytes most recent: 27/9/93
Lymphocytes total lymphocytes: 860/mm3
Lymphocytes total CD4: 344/mm3
Lymphocytes total CD8: 275/mm3
Lymphocytes total B: 129/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 22/9/93: low
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
//
ID W140X(3); standard; MUTATION; TNFH
Accession C0006
Systematic name g.11855G>A, c.475G>A, p.W140X
Description Point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (23-May-1996) to CD40Lbase.
RefLoc L., Notarangelo, Brescia, Italy
RefNumber [2]
RefCrossRef PUBMED; 7717401
RefAuthors Macchi, P., Villa, A., Strina, D., Sacco, M. G., Morali,
RefAuthors F., Brugnoni, D., Giliani, S., Mantuano, E., Fasth, A.,
RefAuthors Andersson, B.
RefTitle Characterization of nine novel mutations in the CD40
RefTitle ligand gene in patients with X-linked hyper IgM syndrome
RefTitle of various ancestry.
RefLoc Am J Hum Genet 56:898-906 (1995)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11855
Feature /change: g -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 475
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 140
Feature /change: W -> X
Feature /domain: TNFH
Protein CD40L mutation
Date of birth 14/11/85
Diagnosis Date: 26/3/88
Status quo Alive
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Gastro-intestinal tract manifestations
Symptoms Oral ulcers
Symptoms Liver/biliary tract abnormalities
Symptoms Hepatitis
Symptoms HBV
Symptoms Cirrhosis
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Anemia
Symptoms Tumors
Symptoms Type: Hcc
Symptoms Other clinical features: Lymphoadenopathy
Treatment IVIG: Constant
Treatment date started: 15/6/86
Treatment Still on IVIG, dose: 400mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment responding to neutropenia: no effect
Treatment responding to serum IgM levels: no effect
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment antibiotics: intermittent
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 26/3/88
IgA 0,05 mg/dL
IgG 2,64 mg/dL
IgM 6,2 mg/dL
Response Antibody responses
Response D/T, date: 13/11/89: absent
Response E.coli: absent
Response Blood group: O+
Response Isoagglutinins: anti-A: 0,0078; anti-B: 0,016
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 22/12/88
Lymphocytes total lymphocytes: 5896/mm3
Lymphocytes total CD4: 3479/mm3
Lymphocytes total CD8: 1238/mm3
Lymphocytes total B: 707/mm3
Lymphocytes most recent: 15/6/90
Lymphocytes total lymphocytes: 5544/mm3
Lymphocytes total CD4: 3160/mm3
Lymphocytes total CD8: 1053/mm3
Lymphocytes total B: 277/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 13/11/89: normal
//
ID W140X(4a); standard; MUTATION; TNFH
Accession C0092
Systematic name g.11855G>A, c.475G>A, p.W140X
Original code KyS
Description Point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 31-May-2002 (Rel. 3, Created)
Date 31-May-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
RefNumber [2]
RefCrossRef PUBMED; 7949815
RefAuthors Iseki, M., Anzo, M., Yamashita, N., Matsuo, N.
RefTitle Hyper-IgM immunodeficiency with disseminated
RefTitle cryptococcosis.
RefLoc Acta Paediatr 83:780-782 (1994)
RefNumber [3]
RefCrossRef PUBMED; 8566950
RefAuthors Seyama, K., Kira, S., Ishidoh, K., Souma, S., Miyakawa,
RefAuthors T., Kominami, E.
RefTitle Genomic structure and PCR-SSCP analysis of the human CD40
RefTitle ligand gene: its application to prenatal screening for X-
RefTitle linked hyper-IgM syndrome.
RefLoc Hum Genet 97:180-185 (1996)
RefNumber [4]
RefCrossRef PUBMED; 9150729
RefAuthors Nonoyama, S., Shimadzu, M., Toru, H., Seyama, K., Nunoi,
RefAuthors H., Neubauer, M., Yata, J., Och, H. D.
RefTitle Mutations of the CD40 ligand gene in 13 japanese patients
RefTitle with X-linked hyper-IgM syndrome.
RefLoc Hum Genet 99:624-627 (1997)
RefNumber [5]
RefCrossRef PUBMED; 7532185
RefAuthors Saiki, O., Tanaka, T., Wada, Y., Uda, H., Inoue, A.,
RefAuthors Katada, Y., Izeki, M., Iwata, M., Nunoi, H., Matsuda, I.
RefTitle Signaling through CD40 rescues igE but not igG or igA
RefTitle secretion in X-linked immunodeficiency with hyper-IgM.
RefLoc J Clin Invest 95:510-514 (1995)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11855
Feature /change: g -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 475
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 140
Feature /change: W -> X
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Mongoloid
Relative Description of pedigree:inherited
Relative Other affected family members: Yes
Relative CD40L; C0093 brother
Status quo Deceased; cause of death: generalized cryptococcosis
Treatment IVIG: constant
//
ID W140X(4b); standard; MUTATION; TNFH
Accession C0093
Systematic name g.11855G>A, c.475G>A, p.W140X
Original code KiS
Description Point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 31-May-2002 (Rel. 3, Created)
Date 31-May-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
RefNumber [2]
RefCrossRef PUBMED; 7949815
RefAuthors Iseki, M., Anzo, M., Yamashita, N., Matsuo, N.
RefTitle Hyper-IgM immunodeficiency with disseminated
RefTitle cryptococcosis.
RefLoc Acta Paediatr 83:780-782 (1994)
RefNumber [3]
RefCrossRef PUBMED; 8566950
RefAuthors Seyama, K., Kira, S., Ishidoh, K., Souma, S., Miyakawa,
RefAuthors T., Kominami, E.
RefTitle Genomic structure and PCR-SSCP analysis of the human CD40
RefTitle ligand gene: its application to prenatal screening for X-
RefTitle linked hyper-IgM syndrome.
RefLoc Hum Genet 97:180-185 (1996)
RefNumber [4]
RefCrossRef PUBMED; 9150729
RefAuthors Nonoyama, S., Shimadzu, M., Toru, H., Seyama, K., Nunoi,
RefAuthors H., Neubauer, M., Yata, J., Och, H. D.
RefTitle Mutations of the CD40 ligand gene in 13 japanese patients
RefTitle with X-linked hyper-IgM syndrome.
RefLoc Hum Genet 99:624-627 (1997)
RefNumber [5]
RefCrossRef PUBMED; 7532185
RefAuthors Saiki, O., Tanaka, T., Wada, Y., Uda, H., Inoue, A.,
RefAuthors Katada, Y., Izeki, M., Iwata, M., Nunoi, H., Matsuda, I.
RefTitle Signaling through CD40 rescues igE but not igG or igA
RefTitle secretion in X-linked immunodeficiency with hyper-IgM.
RefLoc J Clin Invest 95:510-514 (1995)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11855
Feature /change: g -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 475
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 140
Feature /change: W -> X
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Mongoloid
Relative Description of pedigree:inherited
Relative Other affected family members: Yes
Relative CD40L; C0092 brother
Treatment IVIG: constant
Treatment Still on IVIG
//
ID #E142-2(1); standard; MUTATION; TNFH
Accession C0190
Systematic name g.11860_11865delGAAAAA, c.424_429delGAAAAA,
Systematic name r.424_429delgaaaaa, p.Glu142_Gly144del
Original code Patient 67
Description An inframe deletion in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 11860..11865
Feature /change: -gaaaaa
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0015: 480..485
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P29965; CD40L_HUMAN: 142..143
Feature /change: -EK
Feature /domain: TNFH
Sex XY
//
ID K143T(1); standard; MUTATION; TNFH
Accession C0057
Systematic name g.11864T>C, c.484T>C, p.K143T
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (8-Jul-1996) to CD40Lbase.
RefLoc M., Baer, Helsinki, Finland
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11864
Feature /change: a -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 484
Feature /codon: aaa -> aca; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 143
Feature /change: K -> T
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 26/1/80
Relative Other affected family members: Yes; phenotype:same
Diagnosis Date: 15/8/80
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: PCP
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Unknown etiology
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic, cyclic
Symptoms Other clinical features: Pcpx2 4/81-6/89 stopped bactrim
Symptoms because of drug allergy
Treatment IVIG: Constant
Treatment date started: 15/8/80
Treatment Still on IVIG, dose: 350mg/Kg/ 4 weeks
Treatment responding to infection: good
Treatment responding to neutropenia: no effect
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment antibiotics: intermittent
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 15/8/80
IgA 0 mg/dL
IgE 9 kU/L
IgG 0,04 mg/dL
IgM 1,28 mg/dL
Response Antibody responses
Response D/T, date: 15/5/81: low
Response PPS: not done
Response HiB: not done
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA: normal
Lymphocytes antigens: normal
//
ID K143T(2); standard; MUTATION; TNFH
Accession C0058
Systematic name g.11864T>C, c.484T>C, p.K143T
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (8-Jul-1996) to CD40Lbase.
RefLoc M., Baer, Helsinki, Finland
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11864
Feature /change: a -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 484
Feature /codon: aaa -> aca; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 143
Feature /change: K -> T
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 3/8/92
Relative Other affected family members: Yes
Diagnosis Date: 15/6/93
Status quo Deceased
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: PCP
Symptoms Hematological abnormalities
Symptoms Neutropenia: cyclic
Treatment IVIG: Constant
Treatment date started: 15/2/93
Treatment Still on IVIG, dose: 400mg/Kg/ 4 weeks
Treatment responding to infection: good
Treatment responding to neutropenia: marginal
Treatment responding to serum IgM levels: no effect
Treatment Prophylactic medication
Treatment antibiotics: never
Treatment antibiotics: intermittent
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 15/1/93
IgA 0,09 mg/dL
IgG 0,47 mg/dL
IgM 0,79 mg/dL
Response Antibody responses
Response Isoagglutinins: anti-A: 0; anti-B: 0
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA: normal
Lymphocytes anti-CD3: normal
Lymphocytes antigens: normal
//
ID G144E(1); standard; MUTATION; TNFH
Accession C0032
Systematic name g.11867G>A, c.487G>A, p.G144E
Original code ID
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (6-May-1996) to CD40Lbase.
RefLoc I., Resnick, Moscow, Russia
RefNumber [2]
RefCrossRef PUBMED; 7717401
RefAuthors Macchi, P., Villa, A., Strina, D., Sacco, M. G., Morali,
RefAuthors F., Brugnoni, D., Giliani, S., Mantuano, E., Fasth, A.,
RefAuthors Andersson, B.
RefTitle Characterization of nine novel mutations in the CD40
RefTitle ligand gene in patients with X-linked hyper IgM syndrome
RefTitle of various ancestry.
RefLoc Am J Hum Genet 56:898-906 (1995)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11867
Feature /change: g -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 487
Feature /codon: gga -> gaa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 144
Feature /change: G -> E
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 10/2/93
Relative Other affected family members: Yes; phenotype:not
Relative assessable
Diagnosis Date: 3/11/93
Status quo Alive
Symptoms Upper respiratory tract infections
Symptoms Gastro-intestinal tract manifestations
Symptoms Oral ulcers
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Anemia
Symptoms Autoimmune manifestations
Symptoms Arthritis
Symptoms Anti-nuclear antibodies: Not searched
Symptoms Anti-neutrophil antibodies: Not searched
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: Not searched
Symptoms Other clinical features: "dandy-walker syndrome ; ivig
Symptoms or plasma 20ml /kg /4 w"
Treatment IVIG: Constant
Treatment date started: 20/11/93
Treatment Still on IVIG, dose: 200mg/Kg/ 4 weeks
Treatment responding to infection: good
Treatment responding to neutropenia: no effect
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment antibiotics: constant
Treatment G-CSF: never
Treatment Steroids: intermittent
Treatment Effect on neutropenia: good
Treatment Effect on oral ulcers, proctitis: good
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 3/11/93
IgA 0 mg/dL
IgE 0 kU/L
IgG 1,33 mg/dL
IgM 1,09 mg/dL
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Blood group: O+
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 14/1/93
Lymphocytes total lymphocytes: 9510/mm3
Lymphocytes total CD4: 4945/mm3
Lymphocytes total CD8: 380/mm3
Lymphocytes total B: 95/mm3
Lymphocytes most recent: 14/11/95
Lymphocytes total lymphocytes: 9660/mm3
Lymphocytes total CD4: 4540/mm3
Lymphocytes total CD8: 2511/mm3
Lymphocytes total B: 1642/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 11/1/94: normal
Lymphocytes anti-CD3, date: 11/1/94: normal
Lymphocytes antigens, date: 11/1/94: not done
Lymphocytes alloantigens: not done
//
ID G144E(2); standard; MUTATION; TNFH
Accession C0209
Systematic name g.11867G>A, c.431G>A, r.431g>a, p.Gly144Glu
Original code Patient 6
Description A point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 26-Aug-2005 (Rel. 3, Created)
Date 26-Aug-2005 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15623492
RefAuthors Prasad, M. L., Velickovic, M., Weston, S. A., Benson, E.
RefAuthors M.
RefTitle Mutational screening of the CD40 ligand (CD40L) gene in
RefTitle patients with X linked hyper-igM syndrome (XHIM) and
RefTitle determination of carrier status in female relatives.
RefLoc J Clin Pathol 58:90-92 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11867
Feature /change: g -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 487
Feature /codon: gga -> gaa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 144
Feature /change: G -> E
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Australian
//
ID @G144X164(1); standard; MUTATION; TNFH
Accession C0120
Systematic name g.11865_11866insA, c.485_486insA, p.G144fsX164
Original code DG
Description Insertion in the exon 5 leading to a premature stop codon
Description in the TNFH domain
Date 29-Jul-2002 (Rel. 3, Created)
Date 29-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0015: 11866
Feature /change: +a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 486
Feature /note: insertion between nt 480 and 486
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 144
Feature /change: G -> RILHHEQQLG NPGKWETADR X
Feature /domain: TNFH
Protein CD40L mutation
Sex XY
Ethnic origin Negroid; African-American
Symptoms Other clinical features: hepatic/pancreatic carcinoid
Treatment IVIG: constant
//
ID Y145X(1); standard; MUTATION; TNFH
Accession C0174
Systematic name g.11871C>A, c.435C>A, r.435c>a, p.Tyr145X
Original code Patient 41
Description A point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11871
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 491
Feature /codon: tac -> taa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 145
Feature /change: Y -> X
Feature /domain: TNFH
Sex XY
//
ID #Y145-1(1); standard; MUTATION; TNFH
Accession C0191
Systematic name g.11869_11871delTAC, c.433_435delTAC, r.433_435deluac,
Systematic name p.Tyr145del
Original code Patient 68
Description An inframe deletion in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 11869..11871
Feature /change: -tac
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0015: 489..491
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P29965; CD40L_HUMAN: 145
Feature /change: -Y
Feature /domain: TNFH
Sex XY
//
ID T147N(1); standard; MUTATION; TNFH
Accession C0074
Systematic name g.11876C>A, c.496C>A, p.T147N
Original code LB
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 29-May-2002 (Rel. 3, Created)
Date 29-May-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11876
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 496
Feature /codon: acc -> aac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 147
Feature /change: T -> N
Feature /domain: TNFH
Protein CD40L mutation
Sex XY
Ethnic origin Caucasoid
Treatment IVIG: constant
Treatment Still on IVIG
//
ID #M148X153(1a); standard; MUTATION; TNFH
Accession C0233
Systematic name g.11880delG, c.444delG, r.444delg, p.Met148fsX6
Original code 2a
Description A frame shift deletion mutation in the exon 5 leading to a
Description premature stop codon in the TNFH domain
Date 21-Apr-2008 (Rel. 1, Created)
Date 21-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17351759
RefAuthors Danielian, S., Oleastro, M., Eva Rivas, M., Cantisano, C.,
RefAuthors Zelazko, M.
RefTitle Clinical follow-up of 11 argentinian CD40L-deficient
RefTitle patients with 7 unique mutations including the so-
RefTitle called 'milder' mutants.
RefLoc J Clin Immunol:455-459 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 11880
Feature /change: -g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 500
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 148
Feature /change: M -> IATTWX
Feature /domain: TNFH
Status quo Deceased; cause of death: Encephalitis
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms CNS Infections
Symptoms Encephalitis
Sex XY
Ethnic origin Argentina
Protein CD40L mutation
Relative CD40Lbase; C0234brother
IgA 8 mg/dl
IgG 156 mg/dl
IgM 547 mg/dl
//
ID #M148X153(1b); standard; MUTATION; TNFH
Accession C0234
Systematic name g.11880delG, c.444delG, r.444delg, p.Met148fsX6
Original code 2b
Description A frame shift deletion mutation in the exon 5 leading to a
Description premature stop codon in the TNFH domain
Date 21-Apr-2008 (Rel. 1, Created)
Date 21-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17351759
RefAuthors Danielian, S., Oleastro, M., Eva Rivas, M., Cantisano, C.,
RefAuthors Zelazko, M.
RefTitle Clinical follow-up of 11 argentinian CD40L-deficient
RefTitle patients with 7 unique mutations including the so-
RefTitle called 'milder' mutants.
RefLoc J Clin Immunol:455-459 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 11880
Feature /change: -g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 500
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 148
Feature /change: M -> IATTWX
Feature /domain: TNFH
Status quo Alive
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Hematological abnormalities
Symptoms Neutropenia: cyclic
Sex XY
Ethnic origin Argentina
Protein CD40L mutation
Relative CD40Lbase; C0233brother
IgA 29 mg/dl
IgG 337 mg/dl
IgM 89 mg/dl
//
ID #M148X162(1); standard; MUTATION; TNFH
Accession C0029
Systematic name g.11880_11884delGAGCA, c.500_504delGAGCA, p.M148fsX162
Description Deletion in the exon 5 leading to a premature stop codon
Description in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (26-May-1996) to CD40Lbase.
RefLoc A., Jones, London, England
RefNumber [2]
RefCrossRef PUBMED; 8889581
RefAuthors Katz, F., Hinshelwood, S., Rutland, P., Jones, A., Kinnon,
RefAuthors C., Morgan, G.
RefTitle Mutation analysis in CD40 ligand deficiency leading to
RefTitle X-linked hypogammaglobulinemia with hyper IgM syndrome.
RefLoc Hum Mutat 8:223-228 (1996)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 11880..11884
Feature /change: -gagca
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 500..504
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 148..150
Feature /change: MSN -> IQLGNPGKWE TADRX
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 22/7/80
Relative Other affected family members: Yes; phenotype:worse
Diagnosis Date: 15/6/83
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Unknown etiology
Symptoms Liver/biliary tract abnormalities
Symptoms Sclerosing cholangitis
Symptoms Bile culture positive for pseudomonas aeruginosa and
Symptoms streptococcus mitis
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: No
Symptoms Anti-neutrophil antibodies: Not searched
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: Not searched
Treatment IVIG: Constant
Treatment date started: 15/7/83
Treatment Still on IVIG, dose: 400mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment responding to serum IgM levels: no effect
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment G-CSF
Treatment Effect on neutrophil count: good
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 24/7/91
IgA 0,03 mg/dL
IgE 1 kU/L
IgG 3,75 mg/dL
IgM 8,2 mg/dL
Lymphocytes Lymphocytes
Lymphocytes most recent: 28/6/95
Lymphocytes total lymphocytes: 930/mm3
Lymphocytes total CD4: 470/mm3
Lymphocytes total CD8: 130/mm3
Lymphocytes total B: 200/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 20/7/94: normal
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
//
ID L155P(1); standard; MUTATION; TNFH
Accession C0001
Systematic name g.11900T>C, c.520T>C, p.L155P
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (13-Mar-1996) to CD40Lbase.
RefLoc P., Bordigoni, Nancy, France
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11900
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 520
Feature /codon: ctg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 155
Feature /change: L -> P
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 13/4/86
Diagnosis Date: 10/7/86
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: PCP
Symptoms Gastro-intestinal tract manifestations
Symptoms Oral ulcers
Symptoms Protracted diarrhea
Symptoms Unknown etiology
Symptoms Proctitis
Symptoms Inflammatory bowel disease
Symptoms Liver/biliary tract abnormalities
Symptoms Sclerosing cholangitis
Symptoms Idiopathic
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Anemia
Symptoms Autoimmune manifestations
Symptoms Arthritis
Symptoms Anti-neutrophil antibodies: No
Symptoms Anti-platelet antibodies: No
Symptoms Coombs positivity: No
Symptoms Other clinical features: Chronic fever of unknown origin
Symptoms bcgitis localized
Treatment IVIG: Constant
Treatment date started: 23/10/86
Treatment Still on IVIG, dose: 400mg/Kg/ 4 weeks
Treatment responding to infection: good
Treatment responding to neutropenia: no effect
Treatment responding to serum IgM levels: no effect
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment G-CSF: intermittent
Treatment Effect on neutrophil count: no effect
Treatment dose: 10µg/Kg/ 1 day(s)
Treatment Steroids: intermittent
Treatment Effect on autoimmunity: marginal
Treatment Effect on neutropenia: marginal
Treatment Effect on oral ulcers, proctitis: marginal
Treatment Total parental nutrition: Yes. No still on TPN
Treatment Bone marrow transplatation: Yes: Date: 3/10/95
Treatment Donor: matched sibling
Treatment Source: full marrow
Treatment Outcome: alive and well
Treatment BMT-related problems: Cholecystitis acute
Treatment T-cell chimerism: donor
Immunoglobulins date (closest to diagnosis): 1/9/86
IgA 0 mg/dL
IgE 2 kU/L
IgG 0,45 mg/dL
IgM 1,1 mg/dL
Response Antibody responses
Response D/T, date: 23/2/87: low
Response PPS, date: 23/2/87: absent
Response HiB, date: 1/12/93: low
Response Blood group: B+
Response Isoagglutinins: anti-A: 0,031
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 1/9/86
Lymphocytes total lymphocytes: 3640/mm3
Lymphocytes total CD4: 2475/mm3
Lymphocytes total CD8: 983/mm3
Lymphocytes total B: 437/mm3
Lymphocytes most recent: 13/3/95
Lymphocytes total lymphocytes: 1420/mm3
Lymphocytes total CD4: 480/mm3
Lymphocytes total CD8: 250/mm3
Lymphocytes total B: 460/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 9/12/94: normal
Lymphocytes anti-CD3, date: 9/12/94: low
Lymphocytes antigens, date: 9/12/94: absent
Lymphocytes alloantigens, date: 13/6/95: normal
//
ID L155P(2); standard; MUTATION; TNFH
Accession C0101
Systematic name g.11900T>C, c.520T>C, p.L155P
Original code Subject 7
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 05-Jun-2002 (Rel. 3, Created)
Date 05-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [2]
RefCrossRef PUBMED; 8550833
RefAuthors Lin, Q., Rohrer, J., Allen, R. C., Larche, M., Greene, J.
RefAuthors M., Shigeoka, A. O., Gatti, R. A., Derauf, D. C., Belmont,
RefAuthors J. W., Conley, M. E.
RefTitle A single strand conformation polymorphism study of CD40
RefTitle ligand. efficient mutation analysis and carrier detection
RefTitle for X-linked hyper IgM syndrome.
RefLoc J Clin Invest 97:196-201 (1996)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11900
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 520
Feature /codon: ctg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 155
Feature /change: L -> P
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Relative Description of pedigree:De novo
//
ID L155P(3); standard; MUTATION; TNFH
Accession C0102
Systematic name g.11900T>C, c.520T>C, p.L155P
Original code Subject 8
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 05-Jun-2002 (Rel. 3, Created)
Date 05-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [2]
RefCrossRef PUBMED; 8550833
RefAuthors Lin, Q., Rohrer, J., Allen, R. C., Larche, M., Greene, J.
RefAuthors M., Shigeoka, A. O., Gatti, R. A., Derauf, D. C., Belmont,
RefAuthors J. W., Conley, M. E.
RefTitle A single strand conformation polymorphism study of CD40
RefTitle ligand. efficient mutation analysis and carrier detection
RefTitle for X-linked hyper IgM syndrome.
RefLoc J Clin Invest 97:196-201 (1996)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11900
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 520
Feature /codon: ctg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 155
Feature /change: L -> P
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Relative Description of pedigree:De novo
//
ID L155P(4); standard; MUTATION; TNFH
Accession C0155
Systematic name g.11900T>C, c.464T>C, r.464u>c, p.Leu155Pro
Original code patient 37
Description A point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14514918
RefAuthors Gilmour, K. C., Walshe, D., Heath, S., Monaghan, G.,
RefAuthors Loughlin, S., Lester, T., Norbury, G., Cale, C. M.
RefTitle Immunological and genetic analysis of 65 patients with a
RefTitle clinical suspicion of X linked hyper-igM.
RefLoc Mol Pathol 56:256-262 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11900
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 520
Feature /codon: ctg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 155
Feature /change: L -> P
Feature /domain: TNFH
Sex XY
//
ID L155P(5); standard; MUTATION; TNFH
Accession C0210
Systematic name g.11900T>C, c.464T>C, r.464u>c, p.Leu155Pro
Original code Patient 7
Description A point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 26-Aug-2005 (Rel. 3, Created)
Date 26-Aug-2005 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15623492
RefAuthors Prasad, M. L., Velickovic, M., Weston, S. A., Benson, E.
RefAuthors M.
RefTitle Mutational screening of the CD40 ligand (CD40L) gene in
RefTitle patients with X linked hyper-igM syndrome (XHIM) and
RefTitle determination of carrier status in female relatives.
RefLoc J Clin Pathol 58:90-92 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11900
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 520
Feature /codon: ctg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 155
Feature /change: L -> P
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Australian
//
ID L155P(6); standard; MUTATION; TNFH
Accession C0241
Systematic name g.11900T>C, c.464T>C, r.464u>c, p.Leu155Pro
Original code 7
Description A point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 21-Apr-2008 (Rel. 1, Created)
Date 21-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17351759
RefAuthors Danielian, S., Oleastro, M., Eva Rivas, M., Cantisano, C.,
RefAuthors Zelazko, M.
RefTitle Clinical follow-up of 11 argentinian CD40L-deficient
RefTitle patients with 7 unique mutations including the so-
RefTitle called 'milder' mutants.
RefLoc J Clin Immunol:455-459 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11900
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 520
Feature /codon: ctg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 155
Feature /change: L -> P
Feature /domain: TNFH
Status quo Alive
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Sex XY
Ethnic origin Argentina
Protein CD40L mutation
IgA 71 mg/dl
IgG 79 mg/dl
IgM 114 mg/dl
//
ID #N157X161(1); standard; MUTATION; TNFH
Accession C0223
Systematic name g.11906delA, c.470delA, r.470dela, p.Asn157fsX5
Original code P4
Description A frame shift deletion mutation in the exon 5 leading to a
Description premature stop codon in the TNFH domain
Date 17-Apr-2008 (Rel. 1, Created)
Date 17-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17553565
RefAuthors Erdos, M., Lakos, G., Derfalvi, B., Notarangelo, L. D.,
RefAuthors Durandy, A., Marodi, L.
RefTitle Molecular genetic analysis of hungarian patients with the
RefTitle hyper-immunoglobulin M syndrome.
RefLoc Mol Immunol:278-282 (2008)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 11906
Feature /change: -a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 526
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 157
Feature /change: N -> MGNSX
Feature /domain: TNFH
Sex XY
Ethnic origin Hungary
IgA 6 mg/dl
IgG 3 mg/dl
IgM 160 mg/dl
Lymphocytes Lymphocytes
Lymphocytes at diagnosis:
Lymphocytes total lymphocytes: 3600/mm3
Lymphocytes total CD4: 2300/mm3
Lymphocytes total CD8: 500/mm3
//
ID #G158X161(1); standard; MUTATION; TNFH
Accession C0053
Systematic name g.11908delG, c.528delG, p.G158fsX161
Description Deletion in the exon 5 leading to a premature stop codon
Description in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (12-May-1996) to CD40Lbase.
RefLoc V., Monafo, Pavia, Italy
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 11908
Feature /change: -g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 528
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 158
Feature /change: G -> GNSX
Feature /domain: TNFH
Protein CD40L mutation
Date of birth 23/7/88
Diagnosis Date: 27/10/89
Status quo Deceased
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms CNS Infections
Symptoms Meningitis: criptococcus n.
Symptoms Encephalitis: Cryptococcus n.
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: Not searched
Symptoms Anti-neutrophil antibodies: Not searched
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: Not searched
Symptoms Other clinical features: Calcification at both pulmonary
Symptoms apices on chest films present since 1993
Treatment IVIG: Constant
Treatment date started: 15/11/89
Treatment Still on IVIG, dose: 400mg/Kg/ 4 weeks
Treatment responding to infection: good
Treatment responding to serum IgM levels: no effect
Treatment Prophylactic medication
Treatment Fluconazole: intermittent
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 3/10/89
IgA 0,19 mg/dL
IgG 1,9 mg/dL
IgM 13 mg/dL
Response Antibody responses
Response D/T, date: 3/10/89: absent
Response PPS: not done
Response HiB: not done
Response Blood group: O+
Response Isoagglutinins: anti-A: 0; anti-B: 0
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 1/10/89
Lymphocytes total lymphocytes: 24800/mm3
Lymphocytes total CD4: 7700/mm3
Lymphocytes total CD8: 7700/mm3
Lymphocytes most recent: 14/11/95
Lymphocytes total lymphocytes: 1914/mm3
Lymphocytes total CD4: 1200/mm3
Lymphocytes total CD8: 295/mm3
Lymphocytes total B: 396/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 14/11/94: normal
Lymphocytes anti-CD3: not done
Lymphocytes antigens: low
Lymphocytes alloantigens: not done
//
ID L161P(1); standard; MUTATION; TNFH
Accession C0250
Systematic name g.11918T>C, c.482T>C, r.482u>c, p.Leu161Pro
Original code P4
Description A point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 06-Aug-2010 (Rel. 1, Created)
Date 06-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19575287
RefAuthors Aghamohammadi, A., Parvaneh, N., Rezaei, N., Moazzami, K.,
RefAuthors Kashef, S., Abolhassani, H., Imanzadeh, A., Mohammadi, J.,
RefAuthors Hammarstrom, L.
RefTitle Clinical and laboratory findings in hyper-igM syndrome
RefTitle with novel CD40L and AICDA mutations.
RefLoc J Clin Immunol:769-776 (2009)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11918
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 538
Feature /codon: ctg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 161
Feature /change: L -> P
Feature /domain: TNFH
Symptoms Otitis media; Sinusitis; Diarrhea; Atrophic tonsils;
Sex XY
Parents Non-consanguineous
IgA 3 mg/dl
IgG 2 mg/dl
IgM 360 mg/dl
//
ID #R165X190(1); standard; MUTATION; TNFH
Accession C0025
Systematic name g.11931delA, c.551delA, p.R165fsX190
Description Deletion in the exon 5 leading to a premature stop codon
Description in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (2-Feb-1998) to CD40Lbase.
RefLoc T., Abrahamsen, Oslo, Norway
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 11931
Feature /change: -a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 551
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 165
Feature /change: R -> SKDSIISMPK SPSVPIGKLR VKLHLX
Feature /domain: TNFH
Protein CD40L mutation
Date of birth 15/4/95
Relative Other affected family members: Yes; phenotype:same
Diagnosis Date: 16/4/96
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Unknown etiology
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: Not searched
Symptoms Anti-neutrophil antibodies: Not searched
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: Not searched
Treatment IVIG: Constant
Treatment date started: 24/4/96
Treatment Still on IVIG, dose: 160mg/Kg/ 1 weeks
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 16/4/96
IgA 0,23 mg/dL
IgG 0,09 mg/dL
IgM 0,8 mg/dL
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 23/4/96
Lymphocytes total lymphocytes: 13376/mm3
Lymphocytes total CD4: 6570/mm3
Lymphocytes total CD8: 3465/mm3
Lymphocytes total B: 1691/mm3
Lymphocytes most recent: 9/9/97
Lymphocytes total lymphocytes: 3003/mm3
Lymphocytes total CD4: 1635/mm3
Lymphocytes total CD8: 774/mm3
Lymphocytes total B: 260/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 9/9/97: normal
//
ID #R165X190(2); standard; MUTATION; TNFH
Accession C0026
Systematic name g.11931delA, c.551delA, p.R165fsX190
Description Deletion in the exon 5 leading to a premature stop codon
Description in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (2-Feb-1998) to CD40Lbase.
RefLoc T., Abrahamsen, Oslo, Norway
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 11931
Feature /change: -a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 551
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 165
Feature /change: R -> SKDSIISMPK SPSVPIGKLR VKLHLX
Feature /domain: TNFH
Protein CD40L mutation
Date of birth 15/4/95
Relative Other affected family members: Yes; phenotype:same
Diagnosis Date: 14/4/96
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Unknown etiology
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: Not searched
Symptoms Anti-neutrophil antibodies: Not searched
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: Not searched
Treatment IVIG: Constant
Treatment date started: 24/4/96
Treatment Still on IVIG, dose: 160mg/Kg/ 1 weeks
Treatment responding to infection: good
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 14/4/96
IgA 0,6 mg/dL
IgG 0,09 mg/dL
IgM 1 mg/dL
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 23/4/96
Lymphocytes total lymphocytes: 11448/mm3
Lymphocytes total CD4: 5845/mm3
Lymphocytes total CD8: 2946/mm3
Lymphocytes total B: 1485/mm3
Lymphocytes most recent: 9/9/97
Lymphocytes total lymphocytes: 5439/mm3
Lymphocytes total CD4: 2396/mm3
Lymphocytes total CD8: 1957/mm3
Lymphocytes total B: 319/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 9/9/97: normal
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
//
ID Q166X(1); standard; MUTATION; TNFH
Accession C0175
Systematic name g.11932C>T, c.496C>T, r.496c>u, p.Gln166X
Original code Patient 43
Description A point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11932
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 552
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 166
Feature /change: Q -> X
Feature /domain: TNFH
Sex XY
//
ID Q166X(2a); standard; MUTATION; TNFH
Accession C0176
Systematic name g.11932C>T, c.496C>T, r.496c>u, p.Gln166X
Original code Patient 44 a
Description A point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11932
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 552
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 166
Feature /change: Q -> X
Feature /domain: TNFH
Sex XY
Relative CD40Lbase; C0177
//
ID Q166X(2b); standard; MUTATION; TNFH
Accession C0177
Systematic name g.11932C>T, c.496C>T, r.496c>u, p.Gln166X
Original code Patient 44 b
Description A point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11932
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 552
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 166
Feature /change: Q -> X
Feature /domain: TNFH
Sex XY
Relative CD40Lbase; C0176
//
ID G167R(1); standard; MUTATION; TNFH
Accession C0249
Systematic name g.11935G>C, c.499G>C, r.499g>c, p.Gly167Arg
Original code P3
Description A point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 06-Aug-2010 (Rel. 1, Created)
Date 06-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19575287
RefAuthors Aghamohammadi, A., Parvaneh, N., Rezaei, N., Moazzami, K.,
RefAuthors Kashef, S., Abolhassani, H., Imanzadeh, A., Mohammadi, J.,
RefAuthors Hammarstrom, L.
RefTitle Clinical and laboratory findings in hyper-igM syndrome
RefTitle with novel CD40L and AICDA mutations.
RefLoc J Clin Immunol:769-776 (2009)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11935
Feature /change: g -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 555
Feature /codon: gga -> cga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 167
Feature /change: G -> R
Feature /domain: TNFH
Symptoms Pneumonia; Sinusitis; Diarrhea; Atrophic tonsils;
Symptoms Immune thrombocytopenic purpura;
Sex XY
Parents Non-consanguineous
IgA 22 mg/dl
IgG 5 mg/dl
IgM 850 mg/dl
//
ID G167X(1a); standard; MUTATION; TNFH
Accession C0211
Systematic name g.11935G>T, c.499G>T, r.499g>u, p.Gly167X
Original code Patient 8
Description A point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 26-Aug-2005 (Rel. 3, Created)
Date 26-Aug-2005 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15623492
RefAuthors Prasad, M. L., Velickovic, M., Weston, S. A., Benson, E.
RefAuthors M.
RefTitle Mutational screening of the CD40 ligand (CD40L) gene in
RefTitle patients with X linked hyper-igM syndrome (XHIM) and
RefTitle determination of carrier status in female relatives.
RefLoc J Clin Pathol 58:90-92 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11935
Feature /change: g -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 555
Feature /codon: gga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 167
Feature /change: G -> X
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Australian
Relative CD40Lbase; C0212 cousin
//
ID G167X(1b); standard; MUTATION; TNFH
Accession C0212
Systematic name g.11935G>T, c.499G>T, r.499g>u, p.Gly167X
Original code Patient 9
Description A point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 26-Aug-2005 (Rel. 3, Created)
Date 26-Aug-2005 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15623492
RefAuthors Prasad, M. L., Velickovic, M., Weston, S. A., Benson, E.
RefAuthors M.
RefTitle Mutational screening of the CD40 ligand (CD40L) gene in
RefTitle patients with X linked hyper-igM syndrome (XHIM) and
RefTitle determination of carrier status in female relatives.
RefLoc J Clin Pathol 58:90-92 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11935
Feature /change: g -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 555
Feature /codon: gga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 167
Feature /change: G -> X
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Australian
Relative CD40Lbase; C0211 cousin
//
ID Y169D(1a); standard; MUTATION; TNFH
Accession C0178
Systematic name g.11941T>G, c.505T>G, r.505u>g, p.Tyr169Asp
Original code Patient 45 a
Description A point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11941
Feature /change: t -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 561
Feature /codon: tat -> gat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 169
Feature /change: Y -> D
Feature /domain: TNFH
Sex XY
Relative CD40Lbase; C0179
//
ID Y169D(1b); standard; MUTATION; TNFH
Accession C0179
Systematic name g.11941T>G, c.505T>G, r.505u>g, p.Tyr169Asp
Original code Patient 45 b
Description A point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11941
Feature /change: t -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 561
Feature /codon: tat -> gat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 169
Feature /change: Y -> D
Feature /domain: TNFH
Sex XY
Relative CD40Lbase; C0178
//
ID Y169N(1); standard; MUTATION; TNFH
Accession C0215
Systematic name g.11941T>A, c.505T>A, r.505u>a, p.Tyr169Asn
Original code 3-month-old boy
Description A point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 26-Aug-2005 (Rel. 3, Created)
Date 26-Aug-2005 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16095148
RefAuthors Lin, S. C., Shyur, S. D., Ma, Y. C., Huang, L. H., Lee, W.
RefAuthors I.
RefTitle Hyper-igM1 syndrome with interstitial pneumonia and
RefTitle diarrhea caused by coxsackievirus B4 in a 3-month-old
RefTitle infant.
RefLoc Ann Allergy Asthma Immunol 95:93-97 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11941
Feature /change: t -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 561
Feature /codon: tat -> aat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 169
Feature /change: Y -> N
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Other clinical features: coxackievirus B4 isolated by
Symptoms throat culture
Treatment IVIG: constant
//
ID Y170C(1a); standard; MUTATION; TNFH
Accession C0085
Systematic name g.11945A>G, c.565A>G, p.Y170C
Original code JC
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 31-May-2002 (Rel. 3, Created)
Date 31-May-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11945
Feature /change: a -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 565
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 170
Feature /change: Y -> C
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Caucasoid
Relative Other affected family members: Yes
Relative CD40L; C0086
Treatment IVIG: constant
Treatment Still on IVIG
//
ID Y170C(1b); standard; MUTATION; TNFH
Accession C0086
Systematic name g.11945A>G, c.565A>G, p.Y170C
Original code SC
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 31-May-2002 (Rel. 3, Created)
Date 31-May-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11945
Feature /change: a -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 565
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 170
Feature /change: Y -> C
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Caucasoid
Relative Other affected family members: Yes
Relative CD40L; C0085
Treatment IVIG: constant
Treatment Still on IVIG
//
ID Y170C(2); standard; MUTATION; TNFH
Accession C0242
Systematic name g.11945A>G, c.509A>G, r.509a>g, p.Tyr170Cys
Original code Case.1
Description A point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 22-Jun-2010 (Rel. 1, Created)
Date 22-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19841577
RefAuthors Hsu, A. P., Fleisher, T. A., Niemela, J. E.
RefTitle Mutation analysis in primary immunodeficiency diseases:
RefTitle case studies.
RefLoc Curr Opin Allergy Clin Immunol:517-524 (2009)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11945
Feature /change: a -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 565
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 170
Feature /change: Y -> C
Feature /domain: TNFH
Symptoms Lower respiratory tract infections
Symptoms Other clinical features: X-linked hyper-IgM syndrome
Sex XY
Protein CD40L mutation
Comment the mutation is found in mother of patient in heterozygous
Comment condition
//
ID #Y170-3(1); standard; MUTATION; TNFH
Accession C0148
Systematic name g.11944_11952delTATATCTAT, c.508_516delTATATCTAT,
Systematic name r.508_516deluauaucuau, p.Tyr170_Ala173del
Original code patient 27
Description An inframe deletion in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14514918
RefAuthors Gilmour, K. C., Walshe, D., Heath, S., Monaghan, G.,
RefAuthors Loughlin, S., Lester, T., Norbury, G., Cale, C. M.
RefTitle Immunological and genetic analysis of 65 patients with a
RefTitle clinical suspicion of X linked hyper-igM.
RefLoc Mol Pathol 56:256-262 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 11944..11952
Feature /change: -tatatctat
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0015: 564..572
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P29965; CD40L_HUMAN: 170..172
Feature /change: -YIY
Feature /domain: TNFH
Sex XY
//
ID #I171-1(1); standard; MUTATION; TNFH
Accession C0072
Systematic name g.11947_11949delATC, c.567_569delATC, p.I171del
Description Deletion in the exon 5 leading to an amino acid change in
Description the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (1-Jun-1996) to CD40Lbase.
RefLoc A., Jones, London, UK, A. Finn, Shefield, Endland
RefNumber [2]
RefCrossRef PUBMED; 8669967
RefAuthors Andrews, F. J., Katz, F., Jones, A., Smith, S., Finn, A.
RefTitle CD40 ligand deficiency presenting as unresponsive
RefTitle neutropenia.
RefLoc Arch Dis Child 74:458-459 (1996)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 11947..11949
Feature /change: -atc
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0015: 567..569
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P29965; CD40L_HUMAN: 171
Feature /change: -I
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 26/5/92
Diagnosis Date: 1/4/94
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Sepsis
Symptoms Bacterial: Coag.neg.staph.(central line)
Symptoms Gastro-intestinal tract manifestations
Symptoms Oral ulcers
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Anemia
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: Not searched
Symptoms Anti-neutrophil antibodies: No
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: No
Treatment IVIG: Constant
Treatment date started: 5/8/94
Treatment Still on IVIG, dose: 500mg/Kg/ 2 weeks
Treatment responding to infection: marginal
Treatment responding to neutropenia: no effect
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment G-CSF: constant
Treatment Effect on neutrophil count: marginal
Treatment dose: 32µg/Kg/ 2 day(s)
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 9/5/94
IgA 0,1 mg/dL
IgE 2 kU/L
IgG 2,1 mg/dL
IgM 1,6 mg/dL
Response Antibody responses
Response D/T: absent
Response HiB: not done
Response Mmr, 2date: 29/5/94: absent
Response Blood group: B+
Response Isoagglutinins: anti-A: 1
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 17/8/94
Lymphocytes total lymphocytes: 1700/mm3
Lymphocytes total CD4: 650/mm3
Lymphocytes total CD8: 290/mm3
Lymphocytes total B: 680/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 17/8/94: normal
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
//
ID #I171X199(1); standard; MUTATION; TNFH
Accession C0154
Systematic name g.11947_11948delAT, c.511_512delAT, r.511_512delau,
Systematic name p.Ile171fsX29
Original code patient 36
Description A frame shift deletion mutation in the exon 5 leading to a
Description premature stop codon in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14514918
RefAuthors Gilmour, K. C., Walshe, D., Heath, S., Monaghan, G.,
RefAuthors Loughlin, S., Lester, T., Norbury, G., Cale, C. M.
RefTitle Immunological and genetic analysis of 65 patients with a
RefTitle clinical suspicion of X linked hyper-igM.
RefLoc Mol Pathol 56:256-262 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 11947..11948
Feature /change: -at
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 567..568
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 171
Feature /change: I -> LCPSHLLFQS GSFESSSIYS QPLPKVPRX
Feature /domain: TNFH
Sex XY
//
ID A173D(1); standard; MUTATION; TNFH
Accession C0016
Systematic name g.11954C>A, c.574C>A, p.A173D
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (15-Jun-1996) to CD40Lbase.
RefLoc O., Sanal, Ankara, Turkey
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11954
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 574
Feature /codon: gcc -> gac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 173
Feature /change: A -> D
Feature /domain: TNFH
Protein CD40L mutation
Date of birth 28/8/87
Relative Other affected family members: Yes; phenotype:same
Diagnosis Date: 27/6/88
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Unknown etiology
Treatment IVIG: Constant
Treatment date started: 7/3/94
Treatment Still on IVIG, dose: 350mg/Kg/ 4 weeks
Treatment responding to infection: marginal
Treatment Prophylactic medication
Treatment antibiotics: never
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 27/6/88
IgA 0 mg/dL
IgE 0 kU/L
IgG 1,03 mg/dL
IgM 0,6 mg/dL
Response Antibody responses
Response Blood group: O
Response Isoagglutinins: anti-A: 0,016; anti-B: 0,031
Lymphocytes Lymphocytes
Lymphocytes at diagnosis:
Lymphocytes total lymphocytes: 7200/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 16/10/89: normal
//
ID A173D(2); standard; MUTATION; TNFH
Accession C0017
Systematic name g.11954C>A, c.574C>A, p.A173D
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc O., Sanal, Ankara, Turkey
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11954
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 574
Feature /codon: gcc -> gac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 173
Feature /change: A -> D
Feature /domain: TNFH
Protein CD40L mutation
Date of birth 13/5/82
Relative Other affected family members: Yes; phenotype:same
Diagnosis Date: 9/3/84
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Gastro-intestinal tract manifestations
Symptoms Oral ulcers
Symptoms Protracted diarrhea
Symptoms Unknown etiology
Symptoms Liver/biliary tract abnormalities
Symptoms Hepatitis
Symptoms HBV
Symptoms Hematological abnormalities
Symptoms Neutropenia
Symptoms Other clinical features: Ftt
Treatment IVIG: Constant
Treatment date started: 7/3/94
Treatment Still on IVIG, dose: 250mg/Kg/ 4 weeks
Treatment responding to infection: marginal
Treatment responding to neutropenia: good
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 9/3/84
IgA 0 mg/dL
IgE 0 kU/L
IgG 1,4 mg/dL
IgM 2 mg/dL
Response Antibody responses
Response Blood group: O
Response Isoagglutinins: anti-A: 0,002; anti-B: 0,016
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 9/3/84
Lymphocytes total lymphocytes: 7380/mm3
Lymphocytes total CD4: 3320/mm3
Lymphocytes total CD8: 3690/mm3
Lymphocytes total B: 2066/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 13/3/84: normal
//
ID Q174R(1); standard; MUTATION; TNFH
Accession C0038
Systematic name g.11957A>G, c.577A>G, p.Q174R
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (26-May-1996) to CD40Lbase.
RefLoc A., Jones, London, UK
RefNumber [2]
RefCrossRef PUBMED; 8889581
RefAuthors Katz, F., Hinshelwood, S., Rutland, P., Jones, A., Kinnon,
RefAuthors C., Morgan, G.
RefTitle Mutation analysis in CD40 ligand deficiency leading to
RefTitle X-linked hypogammaglobulinemia with hyper IgM syndrome.
RefLoc Hum Mutat 8:223-228 (1996)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11957
Feature /change: a -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 577
Feature /codon: caa -> cga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 174
Feature /change: Q -> R
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 12/1/78
Relative CD40Lbase; C0150
Relative Other affected family members: Yes; phenotype:worse
Diagnosis Date: 15/4/78
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Treatment IVIG: Constant
Treatment date started: 15/6/87
Treatment Still on IVIG, dose: 400mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 11/4/78
IgA 0,01 mg/dL
IgG 2,8 mg/dL
IgM 0,35 mg/dL
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Lymphocytes Lymphocytes
Lymphocytes most recent: 9/3/90
Lymphocytes total lymphocytes: 3700/mm3
Lymphocytes total CD4: 1500/mm3
Lymphocytes total CD8: 700/mm3
Lymphocytes total B: 1100/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 9/3/90: normal
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
//
ID Q174R(2); standard; MUTATION; TNFH
Accession C0150
Systematic name g.11957A>G, c.521A>G, r.521a>g, p.Gln174Arg
Original code patient 30
Description A point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14514918
RefAuthors Gilmour, K. C., Walshe, D., Heath, S., Monaghan, G.,
RefAuthors Loughlin, S., Lester, T., Norbury, G., Cale, C. M.
RefTitle Immunological and genetic analysis of 65 patients with a
RefTitle clinical suspicion of X linked hyper-igM.
RefLoc Mol Pathol 56:256-262 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11957
Feature /change: a -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 577
Feature /codon: caa -> cga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 174
Feature /change: Q -> R
Feature /domain: TNFH
Sex XY
Relative CD40Lbase; C0038
//
ID Q174R(3); standard; MUTATION; TNFH
Accession C0213
Systematic name g.11957A>G, c.521A>G, r.521a>g, p.Gln174Arg
Original code Patient 10
Description A point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 26-Aug-2005 (Rel. 3, Created)
Date 26-Aug-2005 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15623492
RefAuthors Prasad, M. L., Velickovic, M., Weston, S. A., Benson, E.
RefAuthors M.
RefTitle Mutational screening of the CD40 ligand (CD40L) gene in
RefTitle patients with X linked hyper-igM syndrome (XHIM) and
RefTitle determination of carrier status in female relatives.
RefLoc J Clin Pathol 58:90-92 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11957
Feature /change: a -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 577
Feature /codon: caa -> cga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 174
Feature /change: Q -> R
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Australian
//
ID Q174R(4); standard; MUTATION; TNFH
Accession C0224
Systematic name g.11957A>G, c.521A>G, r.521a>g, p.Gln174Arg
Original code P5
Description A point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 17-Apr-2008 (Rel. 1, Created)
Date 17-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17553565
RefAuthors Erdos, M., Lakos, G., Derfalvi, B., Notarangelo, L. D.,
RefAuthors Durandy, A., Marodi, L.
RefTitle Molecular genetic analysis of hungarian patients with the
RefTitle hyper-immunoglobulin M syndrome.
RefLoc Mol Immunol:278-282 (2008)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11957
Feature /change: a -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 577
Feature /codon: caa -> cga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 174
Feature /change: Q -> R
Feature /domain: TNFH
Sex XY
Ethnic origin Hungary
IgA 29 mg/dl
IgG 70 mg/dl
IgM 322 mg/dl
Lymphocytes Lymphocytes
Lymphocytes at diagnosis:
Lymphocytes total lymphocytes: 3350/mm3
Lymphocytes total CD4: 1170/mm3
Lymphocytes total CD8: 1000/mm3
//
ID Q174X(1); standard; MUTATION; TNFH
Accession C0180
Systematic name g.11956C>T, c.520C>T, r.520c>u, p.Gln174X
Original code Patient 47
Description A point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11956
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 576
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 174
Feature /change: Q -> X
Feature /domain: TNFH
Sex XY
//
ID #Q174X199(1); standard; MUTATION; TNFH
Accession C0149
Systematic name g.11957_11958delAA, c.521_522delAA, r.521_522delaa,
Systematic name p.Gln174fsX26
Original code patient 29
Description A frame shift deletion mutation in the exon 5 leading to a
Description premature stop codon in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14514918
RefAuthors Gilmour, K. C., Walshe, D., Heath, S., Monaghan, G.,
RefAuthors Loughlin, S., Lester, T., Norbury, G., Cale, C. M.
RefTitle Immunological and genetic analysis of 65 patients with a
RefTitle clinical suspicion of X linked hyper-igM.
RefLoc Mol Pathol 56:256-262 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 11957..11958
Feature /change: -aa
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 577..578
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 174
Feature /change: Q -> RHLLFQSGSF ESSSIYSQPL PKVPRX
Feature /domain: TNFH
Sex XY
//
ID T176I(1); standard; MUTATION; TNFH
Accession C0034
Systematic name g.11963C>T, c.583C>T, p.T176I
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc A., Fischer, Paris, France
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11963
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 583
Feature /codon: acc -> atc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 176
Feature /change: T -> I
Feature /domain: TNFH
Protein CD40L mutation
Date of birth 15/6/75
Diagnosis Date: 15/6/79
Status quo Alive
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: PCP
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Cryptosporidium
Symptoms Liver/biliary tract abnormalities
Symptoms Sclerosing cholangitis
Symptoms Cryptosporidium
Symptoms Cirrhosis
Symptoms Hematological abnormalities
Symptoms Anemia
Treatment IVIG: Constant
Treatment date started: 15/6/82
Treatment Still on IVIG, dose: 200mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment antibiotics: intermittent
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Yes. Still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 15/6/77
IgA 0,12 mg/dL
IgE 0 kU/L
IgG 0,36 mg/dL
IgM 2,3 mg/dL
Response Antibody responses
Response D/T: absent
Response PPS: not done
Response HiB: not done
Response Isoagglutinins: anti-A: 0; anti-B: 0
Lymphocytes Lymphocytes
Lymphocytes at diagnosis:
Lymphocytes total B: 0/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA: normal
Lymphocytes anti-CD3: normal
Lymphocytes antigens: normal
//
ID #N180X190(1); standard; MUTATION; TNFH
Accession C0147
Systematic name g.11975delA, c.539delA, r.539dela, p.Asn180fsX11
Original code patient 26
Description A frame shift deletion mutation in the exon 5 leading to a
Description premature stop codon in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14514918
RefAuthors Gilmour, K. C., Walshe, D., Heath, S., Monaghan, G.,
RefAuthors Loughlin, S., Lester, T., Norbury, G., Cale, C. M.
RefTitle Immunological and genetic analysis of 65 patients with a
RefTitle clinical suspicion of X linked hyper-igM.
RefLoc Mol Pathol 56:256-262 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 11975
Feature /change: -a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 595
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 180
Feature /change: N -> IGKLRVKLHL X
Feature /domain: TNFH
Sex XY
//
ID @A183+1(1); standard; MUTATION; TNFH
Accession C0059
Systematic name g.11982_11983insATA, c.602_603insATA, p.E182_p.A183insI
Description Insertion in the exon 5 leading to an amino acid change in
Description the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (10-May-1996) to CD40Lbase.
RefLoc T., Espanol, Barcelona, Spain
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0015: 11983
Feature /change: +ata
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe insertion
Feature /loc: IDRefSeq: C0015: 603
Feature aa; 3
Feature /rnalink: 2
Feature /name: insertion; inframe
Feature /loc: UniProt: P29965; CD40L_HUMAN: 183
Feature /change: +I
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 12/11/94
Relative Other affected family members: Yes; phenotype:same
Diagnosis Date: 27/7/95
Status quo Alive
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: PCP
Symptoms Sepsis
Symptoms Bacterial: Staph.epidermidis
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Bacterial: Enterococcus
Treatment IVIG: Constant
Treatment date started: 28/7/95
Treatment Still on IVIG, dose: 400mg/Kg/
Treatment Prophylactic medication
Treatment antibiotics: never
Treatment Total parental nutrition: Yes. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 27/7/95
IgA 0 mg/dL
IgE 1 kU/L
IgG 0,5 mg/dL
IgM 3,65 mg/dL
Response Antibody responses
Response Isoagglutinins: anti-A: 0; anti-B: 0
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 27/7/95
Lymphocytes total lymphocytes: 8895/mm3
Lymphocytes total CD4: 4447/mm3
Lymphocytes total CD8: 978/mm3
Lymphocytes total B: 2953/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 27/7/95: normal
Lymphocytes anti-CD3, date: 27/7/95: normal
Lymphocytes antigens, date: 27/7/95: not done
Lymphocytes alloantigens: not done
//
ID S184X(2); standard; MUTATION; TNFH
Accession C0098
Systematic name g.11987C>A, c.607C>A, p.S184X
Original code KO
Description Point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9150729
RefAuthors Nonoyama, S., Shimadzu, M., Toru, H., Seyama, K., Nunoi,
RefAuthors H., Neubauer, M., Yata, J., Och, H. D.
RefTitle Mutations of the CD40 ligand gene in 13 japanese patients
RefTitle with X-linked hyper-IgM syndrome.
RefLoc Hum Genet 99:624-627 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11987
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 607
Feature /codon: tcg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 184
Feature /change: S -> X
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Mongoloid; Japan
//
ID S184X(1); standard; MUTATION; TNFH
Accession C0024
Systematic name g.11987C>A, c.607C>A, p.S184X
Description Point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (30-Oct-1997) to CD40Lbase.
RefLoc I., Resnick, Moskow, Russia
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11987
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 607
Feature /codon: tcg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 184
Feature /change: S -> X
Feature /domain: TNFH
Protein CD40L mutation
Date of birth 28/3/93
Relative Other affected family members: Yes; phenotype:not
Relative assessable
Diagnosis Date: 16/1/97
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Gastro-intestinal tract manifestations
Symptoms Oral ulcers
Symptoms Proctitis
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Anemia
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: Not searched
Symptoms Anti-neutrophil antibodies: Not searched
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: Not searched
Symptoms Other clinical features: Pararectal abscess,severe
Symptoms candidial esophagitis . ivig or plasma
Treatment IVIG: Constant
Treatment date started: 16/1/97
Treatment Still on IVIG, dose: 200mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment responding to neutropenia: good
Treatment responding to serum IgM levels: good
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment G-CSF: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 15/1/97
IgA 0,05 mg/dL
IgG 0,39 mg/dL
IgM 12,7 mg/dL
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Blood group: B-
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 4/3/97
Lymphocytes total lymphocytes: 1856/mm3
Lymphocytes total CD4: 352/mm3
Lymphocytes total CD8: 612/mm3
Lymphocytes total B: 482/mm3
Lymphocytes most recent: 17/9/97
Lymphocytes total lymphocytes: 1872/mm3
Lymphocytes total CD4: 337/mm3
Lymphocytes total CD8: 692/mm3
Lymphocytes total B: 336/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA: not done
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
//
ID Q186X(1); standard; MUTATION; TNFH
Accession C0081
Systematic name g.11992C>T, c.612C>T, p.Q186X
Original code MB
Description Point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 30-May-2002 (Rel. 3, Created)
Date 30-May-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11992
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 612
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 186
Feature /change: Q -> X
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Caucasoid
Treatment IVIG: constant
Treatment Still on IVIG
//
ID Q186X(2); standard; MUTATION; TNFH
Accession C0181
Systematic name g.11992C>T, c.556C>T, r.556c>u, p.Gln186X
Original code Patient 49
Description A point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 11992
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 612
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 186
Feature /change: Q -> X
Feature /domain: TNFH
Sex XY
//
ID #A187X190(1); standard; MUTATION; TNFH
Accession C0192
Systematic name g.11995delG, c.559delG, r.559delg, p.Ala187fsX4
Original code Patient 69
Description A frame shift deletion mutation in the exon 5 leading to a
Description premature stop codon in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 11995
Feature /change: -g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 615
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 187
Feature /change: A -> LHLX
Feature /domain: TNFH
Sex XY
//
ID @L193X196(1); standard; MUTATION; TNFH
Accession C0067
Systematic name g.12013_12014insCT, c.633_634insCT, p.L193fsX196
Description Insertion in the exon 5 leading to a premature stop codon
Description in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc B., Zegers, Utrecht, Netherlands
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0015: 12014
Feature /change: +ct
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 634
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 193
Feature /change: L -> PSAX
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 7/10/82
Relative Other affected family members: Yes
Diagnosis Date: 7/4/83
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: PCP
Symptoms CNS Infections
Symptoms Encephalitis: Echovirus
Symptoms Gastro-intestinal tract manifestations
Symptoms Oral ulcers
Symptoms Protracted diarrhea
Symptoms Cryptosporidium
Symptoms Other: Giardia,ameba
Symptoms Proctitis
Symptoms Intestinal nodular hyperplasia
Symptoms Hematological abnormalities
Symptoms Neutropenia: cyclic
Symptoms Anemia
Symptoms Autoimmune manifestations
Symptoms Arthritis
Symptoms Anti-nuclear antibodies: Yes
Symptoms Other clinical features: Lymphoadenopathy
Treatment IVIG: Constant
Treatment date started: 15/4/83
Treatment Still on IVIG, dose: 400mg/Kg/
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment antibiotics: constant
Treatment G-CSF: intermittent
Treatment Effect on neutrophil count: good
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
IgA 0 mg/dL
IgE 10 kU/L
IgG 1,6 mg/dL
IgM 0,4 mg/dL
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA: normal
Lymphocytes anti-CD3: normal
Lymphocytes antigens: low
//
ID @L193X197(1a); standard; MUTATION; TNFH
Accession C0121
Systematic name g.12013_12014insCAGCC, c.633_634insCAGCC, p.L193fsX197
Original code JJ
Description Insertion in the exon 5 leading to a premature stop codon
Description in the TNFH domain
Date 29-Jul-2002 (Rel. 3, Created)
Date 29-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0015: 12014
Feature /change: +cagcc
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 634
Feature /note: putative duplication of cagcc
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 193
Feature /change: L -> PASAX
Feature /domain: TNFH
Protein CD40L mutation
Sex XY
Ethnic origin Caucasoid
Relative CD40Lbase; C0122 identical twin brother
Relative Other affected family members: Yes
Status quo Deceased; cause of death: adenocarcinoma of unknown origin
Treatment IVIG: constant
//
ID @L193X197(1b); standard; MUTATION; TNFH
Accession C0122
Systematic name g.12013_12014insCAGCC, c.633_634insCAGCC, p.L193fsX197
Original code CJ
Description Insertion in the exon 5 leading to a premature stop codon
Description in the TNFH domain
Date 29-Jul-2002 (Rel. 3, Created)
Date 29-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0015: 12014
Feature /change: +cagcc
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 634
Feature /note: putative duplication of cagcc
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 193
Feature /change: L -> PASAX
Feature /domain: TNFH
Protein CD40L mutation
Sex XY
Ethnic origin Caucasoid
Relative CD40Lbase; C0121 identical twin brother
Relative Other affected family members: Yes
Status quo Deceased; cause of death: adenocarcinoma of unknown origin
Symptoms Liver/biliary tract abnormalities
Symptoms Cirrhosis
Symptoms Other clinical features: Cholangiolitis
Treatment IVIG: constant
//
ID L195P(1); standard; MUTATION; TNFH
Accession C0039
Systematic name g.12020T>C, c.640T>C, p.L195P
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc E., Vries, Leiden, Netherlands
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12020
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 640
Feature /codon: cta -> cca; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 195
Feature /change: L -> P
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 1/7/91
Diagnosis Date: 15/6/93
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: PCP, CMV
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Cryptosporidium
Symptoms Liver/biliary tract abnormalities
Symptoms Cirrhosis
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Other clinical features: Ftt
Treatment IVIG: Constant
Treatment Still on IVIG, dose: 400mg/Kg/
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
IgA 19 mg/dL
IgG 1 mg/dL
IgM 3,5 mg/dL
//
ID #S197X241(1); standard; MUTATION; TNFH
Accession C0193
Systematic name g.12025delC, c.589delC, r.589delc, p.Ser197fsX45
Original code Patient 70
Description A frame shift deletion mutation in the exon 5 leading to a
Description premature stop codon in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 12025
Feature /change: -t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 645
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 197
Feature /change: S ->
Feature /change: PPVDSRESYS ELQIPTVPPN LAGNNPFTWE EYLNCNQVLR CLSMX
Feature /domain: TNFH
Sex XY
//
ID R200X(1); standard; MUTATION; TNFH
Accession C0103
Systematic name g.12034A>T, c.654A>T, p.R200X
Original code Subject 9
Description Point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 06-Jun-2002 (Rel. 3, Created)
Date 06-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8550833
RefAuthors Lin, Q., Rohrer, J., Allen, R. C., Larche, M., Greene, J.
RefAuthors M., Shigeoka, A. O., Gatti, R. A., Derauf, D. C., Belmont,
RefAuthors J. W., Conley, M. E.
RefTitle A single strand conformation polymorphism study of CD40
RefTitle ligand. efficient mutation analysis and carrier detection
RefTitle for X-linked hyper IgM syndrome.
RefLoc J Clin Invest 97:196-201 (1996)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12034
Feature /change: a -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 654
Feature /codon: aga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 200
Feature /change: R -> X
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Relative Description of pedigree:De novo
//
ID R200X(2); standard; MUTATION; TNFH
Accession C0182
Systematic name g.12034A>T, c.598A>T, r.598a>u, p.Arg200X
Original code Patient 50
Description A point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12034
Feature /change: a -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 654
Feature /codon: aga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 200
Feature /change: R -> X
Feature /domain: TNFH
Sex XY
//
ID R200X(3); standard; MUTATION; TNFH
Accession C0183
Systematic name g.12034A>T, c.598A>T, r.598a>u, p.Arg200X
Original code Patient 51
Description A point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12034
Feature /change: a -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 654
Feature /codon: aga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 200
Feature /change: R -> X
Feature /domain: TNFH
Sex XY
//
ID E202X(1); standard; MUTATION; TNFH
Accession C0040
Systematic name g.12040G>T, c.660G>T, p.E202X
Description Point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (9-Jun-1996) to CD40Lbase.
RefLoc O., Sanal, Ankara, Turkey
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12040
Feature /change: g -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 660
Feature /codon: gag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 202
Feature /change: E -> X
Feature /domain: TNFH
Protein CD40L mutation
Date of birth 18/7/91
Relative Other affected family members: Yes; phenotype:same
Diagnosis Date: 28/6/93
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Cryptosporidium
Symptoms Liver/biliary tract abnormalities
Symptoms Cirrhosis
Symptoms Hematological abnormalities
Symptoms Anemia
Treatment IVIG: Constant
Treatment date started: 21/1/94
Treatment Still on IVIG, dose: 350mg/Kg/ 4 weeks
Treatment responding to infection: marginal
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 28/6/93
IgA 0,1 mg/dL
IgG 0,52 mg/dL
IgM 0,7 mg/dL
Response Antibody responses
Response Blood group: A
Response Isoagglutinins: anti-B: 0,0078
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 30/6/93
Lymphocytes total lymphocytes: 5933/mm3
Lymphocytes total CD4: 3901/mm3
Lymphocytes total CD8: 1788/mm3
Lymphocytes total B: 1305/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 2/7/93: normal
//
ID E202X(2); standard; MUTATION; TNFH
Accession C0041
Systematic name g.12040G>T, c.660G>T, p.E202X
Description Point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (15-Jun-1996) to CD40Lbase.
RefLoc O., Sanal, Ankara, Turkey
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12040
Feature /change: g -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 660
Feature /codon: gag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 202
Feature /change: E -> X
Feature /domain: TNFH
Protein CD40L mutation
Date of birth 23/4/91
Relative Other affected family members: Yes; phenotype:same
Diagnosis Date: 3/12/93
Status quo Alive
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Unknown etiology
Symptoms Hematological abnormalities
Symptoms Anemia
Treatment IVIG: Constant
Treatment date started: 3/1/94
Treatment Still on IVIG, dose: 400mg/Kg/ 4 weeks
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 3/12/93
IgA 0,1 mg/dL
IgG 0,14 mg/dL
IgM 0,78 mg/dL
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 9/3/94
Lymphocytes total lymphocytes: 4620/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 18/1/94: normal
//
ID @E202X230(1); standard; MUTATION; TNFH
Accession C0055
Systematic name g.12040_12041insA, c.660_661insA, p.E202fsX230
Description Insertion in the exon 5 leading to a premature stop codon
Description in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (4-May-1996) to CD40Lbase.
RefLoc P., Tovo, Pavia, Italy
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0015: 12041
Feature /change: +a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 661
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 202
Feature /change: E -> EENLTQSCKY PQFRQTLRAT IHSLGRSIX
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 12/6/90
Relative Other affected family members: Yes; phenotype:not
Relative assessable
Diagnosis Date: 6/11/90
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Liver/biliary tract abnormalities
Symptoms Sclerosing cholangitis
Symptoms Cryptosporidium
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Treatment IVIG: Constant
Treatment date started: 15/11/90
Treatment Still on IVIG, dose: 450mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment Prophylactic medication
Treatment antibiotics: never
Treatment antibiotics: intermittent
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 6/11/90
IgA 0,05 mg/dL
IgG 0,88 mg/dL
IgM 1,1 mg/dL
Response Antibody responses
Response B.pertussis: absent
Response Blood group: A+
Response Isoagglutinins: anti-B: 0,25
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 9/4/91
Lymphocytes total lymphocytes: 6100/mm3
Lymphocytes total CD4: 3690/mm3
Lymphocytes total CD8: 739/mm3
Lymphocytes total B: 754/mm3
Lymphocytes most recent: 8/1/96
Lymphocytes total lymphocytes: 6700/mm3
Lymphocytes total CD4: 2330/mm3
Lymphocytes total CD8: 3150/mm3
Lymphocytes total B: 620/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 21/11/90: normal
Lymphocytes antigens: normal
//
ID @E202X230(2); standard; MUTATION; TNFH
Accession C0056
Systematic name g.12040_12041insA, c.660_661insA, p.E202fsX230
Description Insertion in the exon 5 leading to a premature stop codon
Description in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (4-May-1996) to CD40Lbase.
RefLoc P., Tovo, Pavia, Italy
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0015: 12041
Feature /change: +a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 661
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 202
Feature /change: E -> EENLTQSCKY PQFRQTLRAT IHSLGRSIX
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 11/6/94
Relative Other affected family members: Yes; phenotype:not
Relative assessable
Diagnosis Date: 11/6/94
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: cause unknown
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Bacterial: Salmonella
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Treatment IVIG: Constant
Treatment date started: 22/11/94
Treatment Still on IVIG, dose: 400mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment Prophylactic medication
Treatment antibiotics: never
Treatment antibiotics: intermittent
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 15/11/94
IgA 0,05 mg/dL
IgE 4,8 kU/L
IgG 1,36 mg/dL
IgM 0,39 mg/dL
Response Antibody responses
Response Blood group: A
Response Isoagglutinins: anti-B: 0,5
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 23/11/94
Lymphocytes total lymphocytes: 6250/mm3
Lymphocytes total CD4: 4690/mm3
Lymphocytes total CD8: 750/mm3
Lymphocytes total B: 810/mm3
Lymphocytes most recent: 8/1/96
Lymphocytes total lymphocytes: 7880/mm3
Lymphocytes total CD4: 5600/mm3
Lymphocytes total CD8: 1340/mm3
Lymphocytes total B: 1000/mm3
//
ID R203I(1); standard; MUTATION; TNFH
Accession C0184
Systematic name g.12044G>T, c.608G>T, r.608g>u, p.Arg203Ile
Original code Patient 52
Description A point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12044
Feature /change: g -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 664
Feature /codon: aga -> ata; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 203
Feature /change: R -> I
Feature /domain: TNFH
Sex XY
//
ID A208D(1); standard; MUTATION; TNFH
Accession C0044
Systematic name g.12059C>A, c.679C>A, p.A208D
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc D., Nelson, Bethesda, USA, L., Notarangelo, Brecia, Italy
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12059
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 679
Feature /codon: gct -> gat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 208
Feature /change: A -> D
Feature /domain: TNFH
Protein CD40L mutation
Date of birth 25/10/72
Diagnosis Date: 20/1/98
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: PCP
Symptoms Liver/biliary tract abnormalities
Symptoms Hepatitis
Symptoms HCV
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: Not searched
Symptoms Anti-neutrophil antibodies: Not searched
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: Not searched
Symptoms Other clinical features: "severe chickenpox ;at onset
Symptoms igg<2g/l"
Treatment IVIG: Constant
Treatment date started: 15/6/89
Treatment Still on IVIG, dose: 3500mg/Kg/ 2 weeks
Treatment responding to infection: good
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 14/7/97
IgA 9 mg/dL
IgG 11,6 mg/dL
IgM 1,21 mg/dL
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 14/7/97
Lymphocytes total lymphocytes: 1900/mm3
Lymphocytes total CD4: 795/mm3
Lymphocytes total CD8: 672/mm3
Lymphocytes total B: 1057/mm3
//
ID #H212X229(1); standard; MUTATION; TNFH
Accession C0110
Systematic name g.12072_12073delCA, c.692_693delCA, p.H212fsX229
Original code Case 4
Description Deletion in the exon 5 leading to a premature stop codon
Description in the TNFH domain
Date 26-Jun-2002 (Rel. 3, Created)
Date 26-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7532185
RefAuthors Saiki, O., Tanaka, T., Wada, Y., Uda, H., Inoue, A.,
RefAuthors Katada, Y., Izeki, M., Iwata, M., Nunoi, H., Matsuda, I.
RefTitle Signaling through CD40 rescues igE but not igG or igA
RefTitle secretion in X-linked immunodeficiency with hyper-IgM.
RefLoc J Clin Invest 95:510-514 (1995)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 12072..12073
Feature /change: -ca
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 692..693
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 212..213
Feature /change: HS -> QFRQTLRATI HSLGRSIX
Feature /domain: TNFH
Protein CD40L mutation
Sex XY
Treatment IVIG: constant
//
ID C218X(1); standard; MUTATION; TNFH
Accession C0094
Systematic name g.12090C>A, c.710C>A, p.C218X
Original code SS
Description Point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9150729
RefAuthors Nonoyama, S., Shimadzu, M., Toru, H., Seyama, K., Nunoi,
RefAuthors H., Neubauer, M., Yata, J., Och, H. D.
RefTitle Mutations of the CD40 ligand gene in 13 japanese patients
RefTitle with X-linked hyper-IgM syndrome.
RefLoc Hum Genet 99:624-627 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12090
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 710
Feature /codon: tgc -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 218
Feature /change: C -> X
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Mongoloid; Japan
//
ID C218X(2); standard; MUTATION; TNFH
Accession C0185
Systematic name g.12090C>A, c.654C>A, r.654c>a, p.Cys218X
Original code Patient 53
Description A point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12090
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 710
Feature /codon: tgc -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 218
Feature /change: C -> X
Feature /domain: TNFH
Sex XY
//
ID C218X(3); standard; MUTATION; TNFH
Accession C0186
Systematic name g.12090C>A, c.654C>A, r.654c>a, p.Cys218X
Original code Patient 54
Description A point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12090
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 710
Feature /codon: tgc -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 218
Feature /change: C -> X
Feature /domain: TNFH
Sex XY
//
ID C218X(4); standard; MUTATION; TNFH
Accession C0186
Systematic name g.12090C>A, c.654C>A, r.654c>a, p.Cys218X
Original code Patient 54
Description A point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12090
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 710
Feature /codon: tgc -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 218
Feature /change: C -> X
Feature /domain: TNFH
Sex XY
//
ID C218X(5); standard; MUTATION; TNFH
Accession C0214
Systematic name g.12090C>A, c.654C>A, r.654c>a, p.Cys218X
Original code Patient 11
Description A point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 26-Aug-2005 (Rel. 3, Created)
Date 26-Aug-2005 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15623492
RefAuthors Prasad, M. L., Velickovic, M., Weston, S. A., Benson, E.
RefAuthors M.
RefTitle Mutational screening of the CD40 ligand (CD40L) gene in
RefTitle patients with X linked hyper-igM syndrome (XHIM) and
RefTitle determination of carrier status in female relatives.
RefLoc J Clin Pathol 58:90-92 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12090
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 710
Feature /codon: tgc -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 218
Feature /change: C -> X
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Australian
//
ID C218X(6a); standard; MUTATION; TNFH
Accession C0225
Systematic name g.12090C>A, c.654C>A, r.654c>a, p.Cys218X
Original code P6
Description A point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 17-Apr-2008 (Rel. 1, Created)
Date 17-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17553565
RefAuthors Erdos, M., Lakos, G., Derfalvi, B., Notarangelo, L. D.,
RefAuthors Durandy, A., Marodi, L.
RefTitle Molecular genetic analysis of hungarian patients with the
RefTitle hyper-immunoglobulin M syndrome.
RefLoc Mol Immunol:278-282 (2008)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12090
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 710
Feature /codon: tgc -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 218
Feature /change: C -> X
Feature /domain: TNFH
Sex XY
Ethnic origin Hungary
Relative CD40Lbase; C0226brother
Relative CD40Lbase; C0227nephew
Relative CD40Lbase; C0228nephew
Relative CD40Lbase; C0229nephew
//
ID C218X(6b); standard; MUTATION; TNFH
Accession C0226
Systematic name g.12090C>A, c.654C>A, r.654c>a, p.Cys218X
Original code P7
Description A point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 17-Apr-2008 (Rel. 1, Created)
Date 17-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17553565
RefAuthors Erdos, M., Lakos, G., Derfalvi, B., Notarangelo, L. D.,
RefAuthors Durandy, A., Marodi, L.
RefTitle Molecular genetic analysis of hungarian patients with the
RefTitle hyper-immunoglobulin M syndrome.
RefLoc Mol Immunol:278-282 (2008)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12090
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 710
Feature /codon: tgc -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 218
Feature /change: C -> X
Feature /domain: TNFH
Sex XY
Ethnic origin Hungary
Relative CD40Lbase; C0225brother
Relative CD40Lbase; C0227nephew
Relative CD40Lbase; C0228nephew
Relative CD40Lbase; C0229nephew
//
ID C218X(6c); standard; MUTATION; TNFH
Accession C0227
Systematic name g.12090C>A, c.654C>A, r.654c>a, p.Cys218X
Original code P8
Description A point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 17-Apr-2008 (Rel. 1, Created)
Date 17-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17553565
RefAuthors Erdos, M., Lakos, G., Derfalvi, B., Notarangelo, L. D.,
RefAuthors Durandy, A., Marodi, L.
RefTitle Molecular genetic analysis of hungarian patients with the
RefTitle hyper-immunoglobulin M syndrome.
RefLoc Mol Immunol:278-282 (2008)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12090
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 710
Feature /codon: tgc -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 218
Feature /change: C -> X
Feature /domain: TNFH
Sex XY
Ethnic origin Hungary
Relative CD40Lbase; C0225uncle
Relative CD40Lbase; C0226uncle
Relative CD40Lbase; C0228brother
Relative CD40Lbase; C0229brother
//
ID C218X(6d); standard; MUTATION; TNFH
Accession C0228
Systematic name g.12090C>A, c.654C>A, r.654c>a, p.Cys218X
Original code P9
Description A point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 17-Apr-2008 (Rel. 1, Created)
Date 17-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17553565
RefAuthors Erdos, M., Lakos, G., Derfalvi, B., Notarangelo, L. D.,
RefAuthors Durandy, A., Marodi, L.
RefTitle Molecular genetic analysis of hungarian patients with the
RefTitle hyper-immunoglobulin M syndrome.
RefLoc Mol Immunol:278-282 (2008)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12090
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 710
Feature /codon: tgc -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 218
Feature /change: C -> X
Feature /domain: TNFH
Sex XY
Ethnic origin Hungary
Relative CD40Lbase; C0225uncle
Relative CD40Lbase; C0226uncle
Relative CD40Lbase; C0227brother
Relative CD40Lbase; C0229brother
//
ID C218X(6e); standard; MUTATION; TNFH
Accession C0229
Systematic name g.12090C>A, c.654C>A, r.654c>a, p.Cys218X
Original code P10
Description A point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 17-Apr-2008 (Rel. 1, Created)
Date 17-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17553565
RefAuthors Erdos, M., Lakos, G., Derfalvi, B., Notarangelo, L. D.,
RefAuthors Durandy, A., Marodi, L.
RefTitle Molecular genetic analysis of hungarian patients with the
RefTitle hyper-immunoglobulin M syndrome.
RefLoc Mol Immunol:278-282 (2008)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12090
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 710
Feature /codon: tgc -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 218
Feature /change: C -> X
Feature /domain: TNFH
Sex XY
Ethnic origin Hungary
Relative CD40Lbase; C0225uncle
Relative CD40Lbase; C0226uncle
Relative CD40Lbase; C0227brother
Relative CD40Lbase; C0228brother
IgA 2 mg/dL
IgG 9 mg/dL
IgM 250 mg/dL
Lymphocytes Lymphocytes
Lymphocytes total lymphocytes: 3558/mm3
//
ID C218X(7); standard; MUTATION; TNFH
Accession C0239
Systematic name g.12090C>A, c.654C>A, r.654c>a, p.Cys218X
Original code 5
Description A point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 21-Apr-2008 (Rel. 1, Created)
Date 21-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17351759
RefAuthors Danielian, S., Oleastro, M., Eva Rivas, M., Cantisano, C.,
RefAuthors Zelazko, M.
RefTitle Clinical follow-up of 11 argentinian CD40L-deficient
RefTitle patients with 7 unique mutations including the so-
RefTitle called 'milder' mutants.
RefLoc J Clin Immunol:455-459 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12090
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 710
Feature /codon: tgc -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 218
Feature /change: C -> X
Feature /domain: TNFH
Status quo Alive
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Sex XY
Ethnic origin Argentina
Protein CD40L mutation
IgA <7 mg/dl
IgG 146 mg/dl
IgM 116 mg/dl
//
ID @C218X230(1); standard; MUTATION; TNFH
Accession C0020
Systematic name g.12087_12088insT, c.707_708insT, p.C218fsX230
Description Insertion in the exon 5 leading to a premature stop codon
Description in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (1-Dec-1997) to CD40Lbase.
RefLoc A., Jones, London, UK
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0015: 12088
Feature /change: +t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 708
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 218
Feature /change: C -> LRATIHSLGR SIX
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 14/10/88
Diagnosis Date: 15/6/89
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: Adenovirus
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Anemia
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: Not searched
Symptoms Anti-neutrophil antibodies: Not searched
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: Not searched
Treatment IVIG: Constant
Treatment date started: 15/6/89
Treatment Still on IVIG, dose: 400mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment responding to neutropenia: no effect
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 15/6/89
IgA 0,29 mg/dL
IgG 0,29 mg/dL
IgM 1,56 mg/dL
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 15/6/89
Lymphocytes total lymphocytes: 13900/mm3
Lymphocytes most recent: 7/12/95
Lymphocytes total lymphocytes: 2930/mm3
Lymphocytes total CD4: 1730/mm3
Lymphocytes total CD8: 530/mm3
Lymphocytes total B: 640/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 4/3/91: low
Lymphocytes anti-CD3: not done
Lymphocytes antigens: absent
Lymphocytes alloantigens: not done
//
ID Q220X(1); standard; MUTATION; TNFH
Accession C0033
Systematic name g.12094C>T, c.714C>T, p.Q220X
Description Point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (20-Mar-1996) to CD40Lbase.
RefLoc A., Etzioni, Haifa, Israel
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12094
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 714
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 220
Feature /change: Q -> X
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 1/1/80
Relative Other affected family members: Yes; phenotype:variable in
Relative different affected males
Diagnosis Date: 5/8/80
Status quo Alive
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: PCP
Symptoms Gastro-intestinal tract manifestations
Symptoms Oral ulcers
Symptoms Protracted diarrhea
Symptoms Unknown etiology
Symptoms Liver/biliary tract abnormalities
Symptoms Sclerosing cholangitis
Symptoms Idiopathic
Symptoms Cirrhosis
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: Not searched
Symptoms Anti-neutrophil antibodies: Not searched
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: No
Treatment IVIG: Constant
Treatment date started: 3/4/81
Treatment Still on IVIG, dose: 400mg/Kg/ 4 weeks
Treatment responding to infection: good
Treatment Prophylactic medication
Treatment antibiotics: never
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 10/2/81
IgA 0,05 mg/dL
IgG 0,2 mg/dL
IgM 1,5 mg/dL
Response Antibody responses
Response Mump: absent
Response Measles: absent
Response Blood group: A
Response Isoagglutinins: anti-B: 0,12
Lymphocytes Lymphocytes
Lymphocytes at diagnosis:
Lymphocytes total B: 0/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA: normal
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
//
ID Q220X(2); standard; MUTATION; TNFH
Accession C0187
Systematic name g.12094C>T, c.658C>T, r.658c>u, p.Gln220X
Original code Patient 55
Description A point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12094
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 714
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 220
Feature /change: Q -> X
Feature /domain: TNFH
Sex XY
//
ID Q220X(3); standard; MUTATION; TNFH
Accession C0188
Systematic name g.12094C>T, c.658C>T, r.658c>u, p.Gln220X
Original code Patient 56
Description A point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12094
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 714
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 220
Feature /change: Q -> X
Feature /domain: TNFH
Sex XY
//
ID Q221X(1); standard; MUTATION; TNFH
Accession C0054
Systematic name g.12097C>T, c.717C>T, p.Q221X
Description Point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (4-May-1996) to CD40Lbase.
RefLoc P., Tovo, Pavia, Italy
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12097
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 717
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 221
Feature /change: Q -> X
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 24/4/87
Diagnosis Date: 24/11/88
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Gastro-intestinal tract manifestations
Symptoms Oral ulcers
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Treatment IVIG: Constant
Treatment date started: 23/11/90
Treatment Still on IVIG, dose: 400mg/Kg/ 4 weeks
Treatment responding to infection: good
Treatment responding to neutropenia: good
Treatment Prophylactic medication
Treatment antibiotics: never
Treatment antibiotics: intermittent
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 24/11/88
IgA 0,46 mg/dL
IgE 9,6 kU/L
IgG 1,42 mg/dL
IgM 1,38 mg/dL
Response Antibody responses
Response D/T: absent
Response Hsv: absent
Response Ebv: absent
Response Blood group: O+
Response Isoagglutinins: anti-A: 0,0019; anti-B: 0,016
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 24/11/88
Lymphocytes total lymphocytes: 3980/mm3
Lymphocytes total CD4: 1980/mm3
Lymphocytes total CD8: 597/mm3
Lymphocytes total B: 1273/mm3
Lymphocytes most recent: 4/10/95
Lymphocytes total lymphocytes: 2080/mm3
Lymphocytes total CD4: 1010/mm3
Lymphocytes total CD8: 500/mm3
Lymphocytes total B: 430/mm3
//
ID Q221X(2); standard; MUTATION; TNFH
Accession C0082
Systematic name g.12097C>T, c.717C>T, p.Q221X
Original code WB
Description Point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 30-May-2002 (Rel. 3, Created)
Date 30-May-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
RefNumber [2]
RefCrossRef PUBMED; 8550833
RefAuthors Lin, Q., Rohrer, J., Allen, R. C., Larche, M., Greene, J.
RefAuthors M., Shigeoka, A. O., Gatti, R. A., Derauf, D. C., Belmont,
RefAuthors J. W., Conley, M. E.
RefTitle A single strand conformation polymorphism study of CD40
RefTitle ligand. efficient mutation analysis and carrier detection
RefTitle for X-linked hyper IgM syndrome.
RefLoc J Clin Invest 97:196-201 (1996)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12097
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 717
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 221
Feature /change: Q -> X
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Caucasoid
Treatment IVIG: constant
Treatment Still on IVIG
//
ID S222F(1); standard; MUTATION; TNFH
Accession C0139
Systematic name g.12101C>T, c.721C>T, p.S222F
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 09-Jul-2003 (Rel. 3, Created)
Date 28-Apr-2006 (Rel. 3, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (08-Jul-2003) to CD40Lbase.
RefLoc Mª Cruz Garcia Rodriguez; Unidad de Inmunologia, Hospital
RefLoc la Paz Madrid; Tel 917277238; Fax 917277095; e-mail
RefLoc mcruzgarcia.hulp@salud.madrid.org
RefNumber [2]
RefCrossRef PUBMED; 12823286
RefAuthors Lopez-Granados, E., Cambronero, R., Ferreira, A., Fontan,
RefAuthors G., Garcia-Rodriguez, M. C.
RefTitle Three novel mutations reflect the variety of defects
RefTitle causing phenotypically diverse X-linked hyper-igM
RefTitle syndrome.
RefLoc Clin Exp Immunol 133:123-131 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12101
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 721
Feature /codon: tcc -> ttc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 222
Feature /change: S -> F
Feature /domain: TNFH
Diagnosis Date: 28/4/89
Status quo Alive
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: No
Symptoms Anti-neutrophil antibodies: Not searched
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: Not searched
Symptoms Other autoantibodies: RF neg,Cardiolipin neg,
Symptoms Other autoantibodies: antimicrosomes
Symptoms 1/400
Sex XY
Ethnic origin Caucasoid; Spain
Protein CD40L mutation
Protein Defects of CD40L expression
Protein CD40L expression as assessed by polyclonal
Protein antiserum: present
Parents Non-consanguineous
Immunoglobulins date (closest to diagnosis): 28/4/89
IgA 7 mg/dl, compare with normal for age: low
IgE 170 kU/L, compare with normal for age: normal
IgG 34 mg/dl, compare with normal for age: low
IgM 185 mg/dl, compare with normal for age: high
Response Antibody responses
Response Blood group: o
Response Isoagglutinins: anti-A: 1/128; anti-B: 1/64
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 28/4/89
Lymphocytes total lymphocytes: 1430/mm3
Lymphocytes total CD4: 672/mm3
Lymphocytes total CD8: 443/mm3
Lymphocytes total B: 114/mm3
Lymphocytes most recent: 26/5/05
Lymphocytes total lymphocytes: 1090/mm3
Lymphocytes total CD4: 436/mm3
Lymphocytes total CD8: 545/mm3
Lymphocytes total B: 32/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 26/5/05: normal
Lymphocytes anti-CD3, date: 26/5/05: normal
Treatment IVIG: constant
Treatment date started: 28/4/89
Treatment Still on IVIG, dose: 400mg/Kg/ 4 weeks
Treatment responding to serum IgM levels: no effect
Treatment Total parenteral nutrition: Never
Treatment No bone marrow transplantation
//
ID H224Y(1); standard; MUTATION; TNFH
Accession C0052
Systematic name g.12106G>T, c.726G>T, p.H224Y
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc S., Bielack, Hamburg, Germany
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12106
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 726
Feature /codon: cac -> tac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 224
Feature /change: H -> Y
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 18/6/92
Diagnosis Date: 15/9/96
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Liver/biliary tract abnormalities
Symptoms Hepatitis
Symptoms Unknown
Symptoms Hematological abnormalities
Symptoms Anemia
Symptoms Autoimmune manifestations
Symptoms Other clinical manifestations: Localized atopic eczema
Symptoms left thigh
Symptoms Anti-nuclear antibodies: No
Symptoms Anti-neutrophil antibodies: No
Symptoms Anti-platelet antibodies: Yes
Symptoms Coombs positivity: No
Symptoms Other clinical features: "former premature infant (34 w of
Symptoms gestation ) developmental delay since 11/96
Symptoms intermittently elevated transaminasis and ggt of
Symptoms undetermined origin ; currently got =20,gpt=30,ggt=34;erythroblastophtisis
Symptoms 12/95 and 6/96"
Treatment IVIG: Constant
Treatment date started: 25/7/96
Treatment Still on IVIG
Treatment responding to infection: good
Treatment responding to serum IgM levels: good
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
IgA 0,04 mg/dL
IgE 30 kU/L
IgG 1,3 mg/dL
IgM 3,84 mg/dL
Response Antibody responses
Response D/T: not done
Response HiB: not done
Response Measles,mumps,rubella,parvovirus b19,vzv,cmv: absent
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 15/1/96
Lymphocytes total lymphocytes: 2970/mm3
Lymphocytes total CD4: 1280/mm3
Lymphocytes total CD8: 680/mm3
Lymphocytes total B: 560/mm3
Lymphocytes most recent: 24/6/96
Lymphocytes total lymphocytes: 6170/mm3
Lymphocytes total CD4: 3150/mm3
Lymphocytes total CD8: 1950/mm3
Lymphocytes total B: 1230/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA: not done
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
//
ID G226A(1); standard; MUTATION; TNFH
Accession C0014
Systematic name g.12113G>C, c.733G>C, p.G226A
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (28-Jun-1997) to CD40Lbase.
RefLoc J., Litzman, Brno, Czech Rebublic
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12113
Feature /change: g -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 733
Feature /codon: gga -> gca; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 226
Feature /change: G -> A
Feature /domain: TNFH
Protein CD40L mutation
Date of birth 22/8/90
Relative Other affected family members: Yes; phenotype:not
Relative assessable
Diagnosis Date: 26/5/97
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: No
Symptoms Anti-neutrophil antibodies: Not searched
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: Not searched
Symptoms Other clinical features: Ventricular septal defect
Treatment IVIG: Constant
Treatment date started: 19/9/95
Treatment Still on IVIG, dose: 420mg/Kg/ 4 weeks
Treatment responding to infection: marginal
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 3/5/95
IgA 0,07 mg/dL
IgE 38 kU/L
IgG 0,73 mg/dL
IgM 3,21 mg/dL
Response Antibody responses
Response PPS, date: 3/5/95: absent
Response HiB, date: 3/5/95: absent
Response Blood group: B
Response Isoagglutinins: anti-A: 0,0078
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 3/5/95
Lymphocytes total CD4: 1090/mm3
Lymphocytes total CD8: 650/mm3
Lymphocytes total B: 1020/mm3
Lymphocytes most recent: 1/4/97
Lymphocytes total lymphocytes: 4956/mm3
Lymphocytes total CD4: 1784/mm3
Lymphocytes total CD8: 480/mm3
Lymphocytes total B: 1164/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 3/5/95: normal
Lymphocytes anti-CD3: not done
Lymphocytes antigens: low
Lymphocytes alloantigens: not done
//
ID G226A(2); standard; MUTATION; TNFH
Accession C0015
Systematic name g.12113G>C, c.733G>C, p.G226A
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (28-Jun-1997) to CD40Lbase.
RefLoc J., Litzman, Brno, Czech Rebublic
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12113
Feature /change: g -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 733
Feature /codon: gga -> gca; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 226
Feature /change: G -> A
Feature /domain: TNFH
Protein CD40L mutation
Date of birth 3/1/71
Relative Other affected family members: Yes; phenotype:variable in
Relative different affected males
Diagnosis Date: 6/3/94
Status quo Alive
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: No
Symptoms Anti-neutrophil antibodies: Not searched
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: Not searched
Symptoms Other clinical features: Multiple verruces,extra medullary
Symptoms hematopoiesis
Treatment IVIG: Never
Treatment No still on IVIG
Treatment Prophylactic medication
Treatment antibiotics: never
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 2/3/94
IgA 0,14 mg/dL
IgE 149 kU/L
IgG 1,5 mg/dL
IgM 5,33 mg/dL
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 29/3/95
Lymphocytes total lymphocytes: 2278/mm3
Lymphocytes total CD4: 1321/mm3
Lymphocytes total CD8: 774/mm3
Lymphocytes total B: 45/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA: not done
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
//
ID G227V(1); standard; MUTATION; TNFH
Accession C0075
Systematic name g.12116G>T, c.736G>T, p.G227V
Original code CF
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 29-May-2002 (Rel. 3, Created)
Date 29-May-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
RefNumber [2]
RefCrossRef PUBMED; 8550833
RefAuthors Lin, Q., Rohrer, J., Allen, R. C., Larche, M., Greene, J.
RefAuthors M., Shigeoka, A. O., Gatti, R. A., Derauf, D. C., Belmont,
RefAuthors J. W., Conley, M. E.
RefTitle A single strand conformation polymorphism study of CD40
RefTitle ligand. efficient mutation analysis and carrier detection
RefTitle for X-linked hyper IgM syndrome.
RefLoc J Clin Invest 97:196-201 (1996)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12116
Feature /change: g -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 736
Feature /codon: gga -> gta; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 227
Feature /change: G -> V
Feature /domain: TNFH
Protein CD40L mutation
Sex XY
Ethnic origin Caucasoid
Status quo Deceased; cause of death: liver failure
Treatment IVIG: constant
//
ID G227X(1); standard; MUTATION; TNFH
Accession C0243
Systematic name g.12115G>T, c.679G>T, r.679g>u, p.Gly227X
Original code P1
Description A point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19170966
RefAuthors Rangel-Santos, A., Wakim, V. L., Jacob, C. M., Pastorino,
RefAuthors A. C., Cunha, J. M., Collanieri, A. C., Niemela, J. E.,
RefAuthors Grumach, A. S., Duarte, A. J., Moraes-Vasconcelos, D.,
RefAuthors Oliveira, J. B.
RefTitle Molecular characterization of patients with X-linked hyper-
RefTitle igM syndrome: description of two novel CD40L mutations.
RefLoc Scand J Immunol:169-173 (2009)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12115
Feature /change: g -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 735
Feature /codon: gga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 227
Feature /change: G -> X
Feature /domain: TNFH
Ethnic origin Brazil
Comment Patient's mother was carrier of the same mutation.
//
ID #G227-0(1); standard; MUTATION; TNFH
Accession C0113
Systematic name g.12115_12117delGGA, c.735_737delGGA, p.G227del
Original code US
Description Deletion in the exon 5 leading to an amino acid change in
Description the TNFH domain
Date 25-Jul-2002 (Rel. 3, Created)
Date 25-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9150729
RefAuthors Nonoyama, S., Shimadzu, M., Toru, H., Seyama, K., Nunoi,
RefAuthors H., Neubauer, M., Yata, J., Och, H. D.
RefTitle Mutations of the CD40 ligand gene in 13 japanese patients
RefTitle with X-linked hyper-IgM syndrome.
RefLoc Hum Genet 99:624-627 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 12115..12117
Feature /change: -gga
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0015: 735..737
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P29965; CD40L_HUMAN: 227
Feature /change: -G
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Mongoloid; Japan
Symptoms Hematological abnormalities
Symptoms Neutropenia
//
ID @V228X263(1); standard; MUTATION; TNFH
Accession C0036
Systematic name g.12119_12120insATT, c.739_740insATT, p.V228fsX263
Description Insertion in the exon 5 leading to a premature stop codon
Description in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc G., Lina, Moscow, Russia
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0015: 12120
Feature /change: +att
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 740
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 228
Feature /change: V -> VLFELQPGAS VFVNVTDPSQ VSHGTGFTSF GLLKLX
Feature /domain: TNFH
Protein CD40L mutation
Date of birth 6/9/79
Relative Other affected family members: Yes; phenotype:not
Relative assessable
Diagnosis Date: 23/11/94
Status quo Alive
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Gastro-intestinal tract manifestations
Symptoms Oral ulcers
Symptoms Protracted diarrhea
Symptoms Other: Giardia
Symptoms Peritonitis
Symptoms Liver/biliary tract abnormalities
Symptoms Hepatitis
Symptoms HBV
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Anemia
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: Not searched
Symptoms Anti-neutrophil antibodies: Not searched
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: Not searched
Symptoms Other clinical features: Local bcgitis chronic synusitis
Symptoms lymphoadenopathy frozen plasma 20ml/kg/4w
Treatment IVIG: Constant
Treatment date started: 6/10/82
Treatment Still on IVIG
Treatment responding to infection: good
Treatment responding to neutropenia: no effect
Treatment responding to serum IgM levels: no effect
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Yes. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 29/9/82
IgA 0 mg/dL
IgG 0,32 mg/dL
IgM 3 mg/dL
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Blood group: B+
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 29/9/82
Lymphocytes total lymphocytes: 5000/mm3
Lymphocytes most recent: 14/6/94
Lymphocytes total lymphocytes: 3080/mm3
Lymphocytes total CD4: 1000/mm3
Lymphocytes total CD8: 300/mm3
Lymphocytes total B: 400/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 29/9/82: low
//
ID F229L(1); standard; MUTATION; TNFH
Accession C0246
Systematic name g.12123T>A, c.687T>A, r.687u>a, p.Phe229Leu
Original code P4
Description A point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19170966
RefAuthors Rangel-Santos, A., Wakim, V. L., Jacob, C. M., Pastorino,
RefAuthors A. C., Cunha, J. M., Collanieri, A. C., Niemela, J. E.,
RefAuthors Grumach, A. S., Duarte, A. J., Moraes-Vasconcelos, D.,
RefAuthors Oliveira, J. B.
RefTitle Molecular characterization of patients with X-linked hyper-
RefTitle igM syndrome: description of two novel CD40L mutations.
RefLoc Scand J Immunol:169-173 (2009)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12123
Feature /change: t -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 743
Feature /codon: ttt -> tta; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 229
Feature /change: F -> L
Feature /domain: TNFH
Ethnic origin Brazil
//
ID L231S(1a); standard; MUTATION; TNFH
Accession C0083
Systematic name g.12128T>C, c.748T>C, p.L231S
Original code TY
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 30-May-2002 (Rel. 3, Created)
Date 30-May-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
RefNumber [2]
RefCrossRef PUBMED; 9150729
RefAuthors Nonoyama, S., Shimadzu, M., Toru, H., Seyama, K., Nunoi,
RefAuthors H., Neubauer, M., Yata, J., Och, H. D.
RefTitle Mutations of the CD40 ligand gene in 13 japanese patients
RefTitle with X-linked hyper-IgM syndrome.
RefLoc Hum Genet 99:624-627 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12128
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 748
Feature /codon: ttg -> tcg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 231
Feature /change: L -> S
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Mongoloid
Relative Other affected family members: Yes
Relative CD40L; C0084
Treatment IVIG: constant
Treatment Still on IVIG
//
ID L231S(1b); standard; MUTATION; TNFH
Accession C0084
Systematic name g.12128T>C, c.748T>C, p.L231S
Original code AY
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 30-May-2002 (Rel. 3, Created)
Date 30-May-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
RefNumber [2]
RefCrossRef PUBMED; 9150729
RefAuthors Nonoyama, S., Shimadzu, M., Toru, H., Seyama, K., Nunoi,
RefAuthors H., Neubauer, M., Yata, J., Och, H. D.
RefTitle Mutations of the CD40 ligand gene in 13 japanese patients
RefTitle with X-linked hyper-IgM syndrome.
RefLoc Hum Genet 99:624-627 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12128
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 748
Feature /codon: ttg -> tcg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 231
Feature /change: L -> S
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Mongoloid
Relative Other affected family members: Yes
Relative CD40L; C0083
Treatment IVIG: constant
Treatment Still on IVIG
//
ID Q232X(1); standard; MUTATION; TNFH
Accession C0104
Systematic name g.12130C>T, c.750C>T, p.Q232X
Original code Subject 12
Description Point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 06-Jun-2002 (Rel. 3, Created)
Date 06-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8550833
RefAuthors Lin, Q., Rohrer, J., Allen, R. C., Larche, M., Greene, J.
RefAuthors M., Shigeoka, A. O., Gatti, R. A., Derauf, D. C., Belmont,
RefAuthors J. W., Conley, M. E.
RefTitle A single strand conformation polymorphism study of CD40
RefTitle ligand. efficient mutation analysis and carrier detection
RefTitle for X-linked hyper IgM syndrome.
RefLoc J Clin Invest 97:196-201 (1996)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12130
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 750
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 232
Feature /change: Q -> X
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Relative Description of pedigree:De novo
//
ID Q232X(2); standard; MUTATION; TNFH
Accession C0105
Systematic name g.12130C>T, c.750C>T, p.Q232X
Original code Subject 13
Description Point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 06-Jun-2002 (Rel. 3, Created)
Date 06-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8550833
RefAuthors Lin, Q., Rohrer, J., Allen, R. C., Larche, M., Greene, J.
RefAuthors M., Shigeoka, A. O., Gatti, R. A., Derauf, D. C., Belmont,
RefAuthors J. W., Conley, M. E.
RefTitle A single strand conformation polymorphism study of CD40
RefTitle ligand. efficient mutation analysis and carrier detection
RefTitle for X-linked hyper IgM syndrome.
RefLoc J Clin Invest 97:196-201 (1996)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12130
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 750
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 232
Feature /change: Q -> X
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Relative Description of pedigree:Inherited
//
ID Q232X(3); standard; MUTATION; TNFH
Accession C0230
Systematic name g.12130C>T, c.694C>T, r.694c>u, p.Gln232X
Original code P11
Description A point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 17-Apr-2008 (Rel. 1, Created)
Date 17-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17553565
RefAuthors Erdos, M., Lakos, G., Derfalvi, B., Notarangelo, L. D.,
RefAuthors Durandy, A., Marodi, L.
RefTitle Molecular genetic analysis of hungarian patients with the
RefTitle hyper-immunoglobulin M syndrome.
RefLoc Mol Immunol:278-282 (2008)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12130
Feature /change: c -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 750
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 232
Feature /change: Q -> X
Feature /domain: TNFH
Sex XY
Ethnic origin Hungary
IgA 29 mg/dl
IgG 72 mg/dl
IgM 161 mg/dl
Lymphocytes Lymphocytes
Lymphocytes at diagnosis:
Lymphocytes total lymphocytes: 2570/mm3
Lymphocytes total CD4: 1230/mm3
Lymphocytes total CD8: 330/mm3
//
ID A235P(1); standard; MUTATION; TNFH
Accession C0076
Systematic name g.12139G>C, c.759G>C, p.A235P
Original code JW
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 29-May-2002 (Rel. 3, Created)
Date 29-May-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
RefNumber [2]
RefCrossRef PUBMED; 7678782
RefAuthors Aruffo, A., Farrington, M., Hollenbaugh, D., Li, X.,
RefAuthors Milatovich, A., Nonoyama, S., Bajorath, J., Grosmaire, L.
RefAuthors S., Stenkamp, R., Neubauer, M.
RefTitle The CD40 ligand, gp39, is defective in activated T cells
RefTitle from patients with X-linked hyper-IgM syndrome.
RefLoc Cell 72:291-300 (1993)
RefNumber [3]
RefCrossRef PUBMED; 7518839
RefAuthors Hollenbaugh, D., Wu, L. H., Ochs, H. D., Nonoyama, S.,
RefAuthors Grosmaire, L. S., Ledbetter, J. A., Noelle, R. J., Hill,
RefAuthors H., Aruffo, A.
RefTitle The random inactivation of the X chromosome carrying the
RefTitle defective gene responsible for X-linked hyper IgM
RefTitle syndrome (X-HIM) in female carriers of HIGM1.
RefLoc J Clin Invest 94:616-622 (1994)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12139
Feature /change: g -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 759
Feature /codon: gct -> cct; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 235
Feature /change: A -> P
Feature /domain: TNFH
Protein CD40L mutation
Sex XY
Ethnic origin Caucasoid
Relative Description of pedigree:inherited
Status quo Deceased; cause of death: a stroke at age 26 due to severe
Status quo hypertension caused by acute onset nephritis at 10 years
Status quo of age
Treatment IVIG: constant
//
ID S236X(1); standard; MUTATION; TNFH
Accession C0108
Systematic name g.12143C>A, c.763C>A, p.S236X
Original code F.F.
Description Point mutation in the exon 5 leading to a premature stop
Description codon in the TNFH domain
Date 18-Jun-2002 (Rel. 3, Created)
Date 18-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11158612
RefAuthors Weller, S., Faili, A., Garcia, C., Braun, M. C., Le Deist
RefAuthors F, F., de Saint Basile G, G., Hermine, O., Fischer, A.,
RefAuthors Reynaud, C. A., Weill, J. C.
RefTitle CD40-CD40L independent ig gene hypermutation suggests a
RefTitle second B cell diversification pathway in humans.
RefLoc Proc Natl Acad Sci U S A 98:1166-1170 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12143
Feature /change: c -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0015: 763
Feature /codon: tcg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 236
Feature /change: S -> X
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
IgA <0.08 mg/dL
IgG 0.14 mg/dL
IgM 14 mg/dL
//
ID V237E(1); standard; MUTATION; TNFH
Accession C0099
Systematic name g.12146T>A, c.766T>A, p.V237E
Original code Case 3
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 04-Jun-2002 (Rel. 3, Created)
Date 04-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7532185
RefAuthors Saiki, O., Tanaka, T., Wada, Y., Uda, H., Inoue, A.,
RefAuthors Katada, Y., Izeki, M., Iwata, M., Nunoi, H., Matsuda, I.
RefTitle Signaling through CD40 rescues igE but not igG or igA
RefTitle secretion in X-linked immunodeficiency with hyper-IgM.
RefLoc J Clin Invest 95:510-514 (1995)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12146
Feature /change: t -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 766
Feature /codon: gtg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 237
Feature /change: V -> E
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Mongoloid
Relative Description of pedigree:De novo
//
ID @V237X243(1); standard; MUTATION; TNFH
Accession C0027
Systematic name g.12145_12146insC, c.765_766insC, p.V237fsX243
Description Insertion in the exon 5 leading to a premature stop codon
Description in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (1-Dec-1997) to CD40Lbase.
RefLoc P., Bordigoni, Nancy, France
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0015: 12146
Feature /change: +c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 766
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 237
Feature /change: V -> AVCQCDX
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 13/5/65
Diagnosis Date: 15/3/76
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Liver/biliary tract abnormalities
Symptoms Hepatitis
Symptoms Unknown
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Autoimmune manifestations
Symptoms Arthritis
Symptoms Anti-nuclear antibodies: No
Symptoms Anti-neutrophil antibodies: No
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: Not searched
Treatment IVIG: Constant
Treatment Still on IVIG, dose: 400mg/Kg/ 4 weeks
Treatment responding to infection: good
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 12/5/76
IgA 0 mg/dL
IgE 5 kU/L
IgG 1,5 mg/dL
IgM 2,1 mg/dL
Response Antibody responses
Response D/T, date: 10/10/97: low
Response HiB, date: 10/10/97: low
Response Pneumococcus, 2date: 10/10/97: absent
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 15/7/76
Lymphocytes total lymphocytes: 1230/mm3
Lymphocytes total B: 200/mm3
Lymphocytes most recent: 25/10/96
Lymphocytes total lymphocytes: 670/mm3
Lymphocytes total CD4: 210/mm3
Lymphocytes total CD8: 190/mm3
Lymphocytes total B: 180/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 15/11/96: low
Lymphocytes anti-CD3, date: 15/11/96: low
Lymphocytes antigens, date: 15/11/96: absent
Lymphocytes alloantigens: not done
//
ID #T242X284(1); standard; MUTATION; TNFH
Accession C0060
Systematic name g.12162_12163delTG, c.782_783delTG, p.T242fsX284
Description Deletion in the exon 5 leading to a premature stop codon
Description in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (19-Mar-1996) to CD40Lbase.
RefLoc E., Sanders, Utrecht, Netherlands
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 12162..12163
Feature /change: -tg
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 782..783
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 242..243
Feature /change: TD
Feature /change: -> TSKPSEPWHW LHVLWLTQTL NSVTLQAVVD VTLGVFIIQH
Feature /change: SGX
Feature /domain: TNFH
Protein CD40L mutation
Date of birth 22/6/90
Diagnosis Date: 21/6/94
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Sepsis
Symptoms Bacterial: "e.coli,enterococcus 18 m;strept.viridans,staph.aureus
Symptoms 22 m.;strept.viridans,staph.aureus 2 y. and 5 m."
Symptoms CNS Infections
Symptoms Meningitis: M.bovis
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Cryptosporidium
Symptoms Other: Ameba,candida
Symptoms Liver/biliary tract abnormalities
Symptoms Sclerosing cholangitis
Symptoms Idiopathic
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Anemia
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: No
Symptoms Anti-neutrophil antibodies: No
Symptoms Anti-platelet antibodies: No
Symptoms Coombs positivity: No
Symptoms Other clinical features: Disseminated
Symptoms m.bovis,vur (enterococcus,staph.)recurrent viral
Symptoms gastroenteritis,severe chickenpox
Treatment IVIG: Constant
Treatment date started: 25/6/94
Treatment Still on IVIG, dose: 500mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment responding to neutropenia: good
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment antibiotics: constant
Treatment G-CSF: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 21/6/94
IgA 0,12 mg/dL
IgE 1 kU/L
IgM 0,7 mg/dL
Response Antibody responses
Response D/T: absent
Response PPS: absent
Response HiB: absent
Response Hepatitis ebv cmv: absent
Response Blood group: O
Response Isoagglutinins: anti-A: 0,06; anti-B: 0,25
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 21/6/94
Lymphocytes total lymphocytes: 12500/mm3
Lymphocytes total CD4: 7450/mm3
Lymphocytes total CD8: 1750/mm3
Lymphocytes total B: 1375/mm3
Lymphocytes most recent: 11/11/95
Lymphocytes total lymphocytes: 10500/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 21/6/94: normal
Lymphocytes anti-CD3, date: 21/6/94: normal
Lymphocytes antigens, date: 21/6/94: low
Lymphocytes alloantigens, date: 21/6/94: normal
//
ID F253I(1); standard; MUTATION; TNFH
Accession C0240
Systematic name g.12193T>A, c.757T>A, r.757u>a, p.Phe253Ile
Original code 6
Description A point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 21-Apr-2008 (Rel. 1, Created)
Date 21-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17351759
RefAuthors Danielian, S., Oleastro, M., Eva Rivas, M., Cantisano, C.,
RefAuthors Zelazko, M.
RefTitle Clinical follow-up of 11 argentinian CD40L-deficient
RefTitle patients with 7 unique mutations including the so-
RefTitle called 'milder' mutants.
RefLoc J Clin Immunol:455-459 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12193
Feature /change: t -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 813
Feature /codon: ttc -> atc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 253
Feature /change: F -> I
Feature /domain: TNFH
Status quo Alive
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Hematological abnormalities
Symptoms Anemia
Sex XY
Ethnic origin Argentina
Protein CD40L mutation
IgA 12 mg/dl
IgG 70 mg/dl
IgM 594 mg/dl
//
ID T254M(1); standard; MUTATION; TNFH
Accession C0019
Systematic name g.12197C>T, c.817C>T, p.T254M
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc N., Hartwig, Rotterdam, Netherlands
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12197
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 817
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 254
Feature /change: T -> M
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 28/10/94
Relative Other affected family members: Yes; phenotype:not
Relative assessable
Diagnosis Date: 1/2/97
Status quo Deceased
Symptoms Other clinical features: Follow up of patient (since
Symptoms nephew was known with x-linked agamma) showed agamma
Symptoms started with ivig before clinical symptoms
Treatment IVIG: Constant
Treatment date started: 15/7/95
Treatment Still on IVIG, dose: 400mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment Prophylactic medication
Treatment antibiotics: never
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 13/7/95
IgA 0,13 mg/dL
IgG 0,29 mg/dL
IgM 0,51 mg/dL
Response Antibody responses
Response D/T, date: 13/7/95: absent
Response PPS: not done
Response HiB: not done
Response Blood group: B-
Response Isoagglutinins: anti-A: 0
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 13/7/95
Lymphocytes total lymphocytes: 8930/mm3
Lymphocytes total CD4: 5270/mm3
Lymphocytes total CD8: 1250/mm3
Lymphocytes total B: 1430/mm3
Lymphocytes most recent: 1/10/96
Lymphocytes total lymphocytes: 5490/mm3
Lymphocytes total CD4: 4230/mm3
Lymphocytes total CD8: 930/mm3
Lymphocytes total B: 790/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 4/8/95: normal
Lymphocytes anti-CD3, date: 4/8/95: low
Lymphocytes antigens, date: 4/8/95
//
ID T254M(2); standard; MUTATION; TNFH
Accession C0077
Systematic name g.12197C>T, c.817C>T, p.T254M
Original code TA
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 30-May-2002 (Rel. 3, Created)
Date 30-May-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
RefNumber [2]
RefCrossRef PUBMED; 9150729
RefAuthors Nonoyama, S., Shimadzu, M., Toru, H., Seyama, K., Nunoi,
RefAuthors H., Neubauer, M., Yata, J., Och, H. D.
RefTitle Mutations of the CD40 ligand gene in 13 japanese patients
RefTitle with X-linked hyper-IgM syndrome.
RefLoc Hum Genet 99:624-627 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12197
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 817
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 254
Feature /change: T -> M
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Caucasoid
Treatment IVIG: constant
Treatment Still on IVIG
//
ID T254M(3); standard; MUTATION; TNFH
Accession C0078
Systematic name g.12197C>T, c.817C>T, p.T254M
Original code IN
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 30-May-2002 (Rel. 3, Created)
Date 30-May-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
RefNumber [2]
RefCrossRef PUBMED; 9150729
RefAuthors Nonoyama, S., Shimadzu, M., Toru, H., Seyama, K., Nunoi,
RefAuthors H., Neubauer, M., Yata, J., Och, H. D.
RefTitle Mutations of the CD40 ligand gene in 13 japanese patients
RefTitle with X-linked hyper-IgM syndrome.
RefLoc Hum Genet 99:624-627 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12197
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 817
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 254
Feature /change: T -> M
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Mongoloid; Japan
Symptoms Hematological abnormalities
Symptoms Neutropenia: cyclic
Treatment IVIG: never
//
ID T254M(4); standard; MUTATION; TNFH
Accession C0151
Systematic name g.12197C>T, c.761C>T, r.761c>u, p.Thr254Met
Original code patient 31
Description A point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14514918
RefAuthors Gilmour, K. C., Walshe, D., Heath, S., Monaghan, G.,
RefAuthors Loughlin, S., Lester, T., Norbury, G., Cale, C. M.
RefTitle Immunological and genetic analysis of 65 patients with a
RefTitle clinical suspicion of X linked hyper-igM.
RefLoc Mol Pathol 56:256-262 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12197
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 817
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 254
Feature /change: T -> M
Feature /domain: TNFH
Sex XY
//
ID T254M(5); standard; MUTATION; TNFH
Accession C0153
Systematic name g.12197C>T, c.761C>T, r.761c>u, p.Thr254Met
Original code patient 35
Description A point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14514918
RefAuthors Gilmour, K. C., Walshe, D., Heath, S., Monaghan, G.,
RefAuthors Loughlin, S., Lester, T., Norbury, G., Cale, C. M.
RefTitle Immunological and genetic analysis of 65 patients with a
RefTitle clinical suspicion of X linked hyper-igM.
RefLoc Mol Pathol 56:256-262 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12197
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 817
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 254
Feature /change: T -> M
Feature /domain: TNFH
Sex XY
//
ID T254M(6); standard; MUTATION; TNFH
Accession C0189
Systematic name g.12197C>T, c.761C>T, r.761c>u, p.Thr254Met
Original code Patient 61
Description A point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12197
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 817
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 254
Feature /change: T -> M
Feature /domain: TNFH
Sex XY
//
ID T254M(7a); standard; MUTATION; TNFH
Accession C0235
Systematic name g.12197C>T, c.761C>T, r.761c>u, p.Thr254Met
Original code 3a
Description A point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 21-Apr-2008 (Rel. 1, Created)
Date 21-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17351759
RefAuthors Danielian, S., Oleastro, M., Eva Rivas, M., Cantisano, C.,
RefAuthors Zelazko, M.
RefTitle Clinical follow-up of 11 argentinian CD40L-deficient
RefTitle patients with 7 unique mutations including the so-
RefTitle called 'milder' mutants.
RefLoc J Clin Immunol:455-459 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12197
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 817
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 254
Feature /change: T -> M
Feature /domain: TNFH
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Status quo Alive
Sex XY
Ethnic origin Argentina
Protein CD40L mutation
Relative CD40Lbase; C0236
Relative CD40Lbase; C0237
IgA <7 mg/dl
IgG 40 mg/dl
IgM 307 mg/dl
//
ID T254M(7b); standard; MUTATION; TNFH
Accession C0236
Systematic name g.12197C>T, c.761C>T, r.761c>u, p.Thr254Met
Original code 3b
Description A point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 21-Apr-2008 (Rel. 1, Created)
Date 21-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17351759
RefAuthors Danielian, S., Oleastro, M., Eva Rivas, M., Cantisano, C.,
RefAuthors Zelazko, M.
RefTitle Clinical follow-up of 11 argentinian CD40L-deficient
RefTitle patients with 7 unique mutations including the so-
RefTitle called 'milder' mutants.
RefLoc J Clin Immunol:455-459 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12197
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 817
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 254
Feature /change: T -> M
Feature /domain: TNFH
Status quo Alive
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms CNS Infections
Symptoms Encephalitis
Sex XY
Ethnic origin Argentina
Protein CD40L mutation
Relative CD40Lbase; C0235
Relative CD40Lbase; C0237
IgA <7 mg/dl
IgG 40 mg/dl
IgM 48 mg/dl
//
ID T254M(7c); standard; MUTATION; TNFH
Accession C0237
Systematic name g.12197C>T, c.761C>T, r.761c>u, p.Thr254Met
Original code 3c
Description A point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 21-Apr-2008 (Rel. 1, Created)
Date 21-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17351759
RefAuthors Danielian, S., Oleastro, M., Eva Rivas, M., Cantisano, C.,
RefAuthors Zelazko, M.
RefTitle Clinical follow-up of 11 argentinian CD40L-deficient
RefTitle patients with 7 unique mutations including the so-
RefTitle called 'milder' mutants.
RefLoc J Clin Immunol:455-459 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12197
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 817
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 254
Feature /change: T -> M
Feature /domain: TNFH
Status quo Alive
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms CNS Infections
Symptoms Encephalitis
Sex XY
Ethnic origin Argentina
Protein CD40L mutation
Relative CD40Lbase; C0235
Relative CD40Lbase; C0236
IgA <7 mg/dl
IgG 107 mg/dl
IgM 217 mg/dl
//
ID T254M(8); standard; MUTATION; TNFH
Accession C0248
Systematic name g.12197C>T, c.761C>T, r.761c>u, p.Thr254Met
Original code P2
Description A point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 06-Aug-2010 (Rel. 1, Created)
Date 06-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19575287
RefAuthors Aghamohammadi, A., Parvaneh, N., Rezaei, N., Moazzami, K.,
RefAuthors Kashef, S., Abolhassani, H., Imanzadeh, A., Mohammadi, J.,
RefAuthors Hammarstrom, L.
RefTitle Clinical and laboratory findings in hyper-igM syndrome
RefTitle with novel CD40L and AICDA mutations.
RefLoc J Clin Immunol:769-776 (2009)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12197
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 817
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 254
Feature /change: T -> M
Feature /domain: TNFH
Symptoms Pneumonia; Otitis media; Sinusitis; Diarrhea;
Symptoms Atrophic tonsils; BCGiosis;
Sex XY
Parents Non-consanguineous
IgA 0 mg/dl
IgG 0 mg/dl
IgM 204 mg/dl
//
ID G257D(1); standard; MUTATION; TNFH
Accession C0013
Systematic name g.12206G>A, c.826G>A, p.G257D
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (22-May-1996) to CD40Lbase.
RefLoc M., Kanariou, Athens, Greece
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12206
Feature /change: g -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 826
Feature /codon: ggc -> gac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 257
Feature /change: G -> D
Feature /domain: TNFH
Protein CD40L mutation
Date of birth 15/7/85
Diagnosis Date: 2/1/87
Status quo Alive
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: cause unknown
Symptoms Liver/biliary tract abnormalities
Symptoms Sclerosing cholangitis
Symptoms Idiopathic
Symptoms Cirrhosis
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: No
Symptoms Anti-neutrophil antibodies: Not searched
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: No
Treatment IVIG: Constant
Treatment date started: 2/1/87
Treatment Still on IVIG, dose: 400mg/Kg/ 4 weeks
Treatment responding to infection: good
Treatment responding to serum IgM levels: marginal
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 2/1/87
IgA 0 mg/dL
IgE 1 kU/L
IgG 0 mg/dL
IgM 8 mg/dL
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 7/1/87
Lymphocytes total lymphocytes: 2800/mm3
Lymphocytes total CD4: 504/mm3
Lymphocytes total CD8: 812/mm3
Lymphocytes total B: 1064/mm3
Lymphocytes most recent: 5/7/90
Lymphocytes total lymphocytes: 6460/mm3
Lymphocytes total CD4: 3036/mm3
Lymphocytes total CD8: 1679/mm3
Lymphocytes total B: 1356/mm3
//
ID G257S(1); standard; MUTATION; TNFH
Accession C0030
Systematic name g.12205G>A, c.825G>A, p.G257S
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (26-May-1996) to CD40Lbase.
RefLoc A., Jones, London, England
RefNumber [2]
RefCrossRef PUBMED; 8889581
RefAuthors Katz, F., Hinshelwood, S., Rutland, P., Jones, A., Kinnon,
RefAuthors C., Morgan, G.
RefTitle Mutation analysis in CD40 ligand deficiency leading to
RefTitle X-linked hypogammaglobulinemia with hyper IgM syndrome.
RefLoc Hum Mutat 8:223-228 (1996)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12205
Feature /change: g -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 825
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 257
Feature /change: G -> S
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 13/4/82
Diagnosis Date: 3/11/83
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Osteo-articular Infections
Symptoms Arthritis: None identified
Symptoms Osteomyelitis: Possible m.tb not cultured
Symptoms confirmed ,strong mantoux positivity
Symptoms Gastro-intestinal tract manifestations
Symptoms Oral ulcers
Symptoms Liver/biliary tract abnormalities
Symptoms Hepatitis
Symptoms Unknown
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: No
Symptoms Anti-neutrophil antibodies: Not searched
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: Not searched
Symptoms Other clinical features: Mild elevation of transaminasis
Symptoms no cause found
Treatment IVIG: Constant
Treatment date started: 15/6/85
Treatment Still on IVIG, dose: 400mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment responding to neutropenia: good
Treatment responding to serum IgM levels: good
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 3/11/83
IgA 7,3 mg/dL
IgG 0,1 mg/dL
IgM 3,4 mg/dL
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 3/11/83
Lymphocytes total lymphocytes: 3500/mm3
Lymphocytes total CD4: 1400/mm3
Lymphocytes total CD8: 450/mm3
Lymphocytes most recent: 5/2/92
Lymphocytes total lymphocytes: 3560/mm3
Lymphocytes total CD4: 1800/mm3
Lymphocytes total CD8: 700/mm3
Lymphocytes total B: 600/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 5/2/92: normal
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
//
ID L258S(1a); standard; MUTATION; TNFH
Accession C0087
Systematic name g.12209T>C, c.829T>C, p.L258S
Original code YL
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 31-May-2002 (Rel. 3, Created)
Date 31-May-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12209
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 829
Feature /codon: tta -> tca; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 258
Feature /change: L -> S
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Caucasoid
Relative Other affected family members: Yes
Relative CD40L; C0088
Relative CD40L; C0089
Treatment IVIG: constant
Treatment Still on IVIG
//
ID L258S(1b); standard; MUTATION; TNFH
Accession C0088
Systematic name g.12209T>C, c.829T>C, p.L258S
Original code JoB
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 31-May-2002 (Rel. 3, Created)
Date 31-May-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12209
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 829
Feature /codon: tta -> tca; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 258
Feature /change: L -> S
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Caucasoid
Relative Other affected family members: Yes
Relative CD40L; C0087
Relative CD40L; C0089
Treatment IVIG: constant
Treatment Still on IVIG
//
ID L258S(1c); standard; MUTATION; TNFH
Accession C0089
Systematic name g.12209T>C, c.829T>C, p.L258S
Original code JaB
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 31-May-2002 (Rel. 3, Created)
Date 31-May-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12209
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 829
Feature /codon: tta -> tca; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 258
Feature /change: L -> S
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Caucasoid
Relative Other affected family members: Yes
Relative CD40L; C0087
Relative CD40L; C0088
Treatment IVIG: constant
Treatment Still on IVIG
//
ID L258S(2a); standard; MUTATION; TNFH
Accession C0090
Systematic name g.12209T>C, c.829T>C, p.L258S
Original code DA
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 31-May-2002 (Rel. 3, Created)
Date 31-May-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12209
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 829
Feature /codon: tta -> tca; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 258
Feature /change: L -> S
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Caucasoid
Relative Other affected family members: Yes
Relative CD40L; C0091
Treatment IVIG: constant
Treatment Still on IVIG
//
ID L258S(2b); standard; MUTATION; TNFH
Accession C0091
Systematic name g.12209T>C, c.829T>C, p.L258S
Original code PA
Description Point mutation in the exon 5 leading to an amino acid
Description change in the TNFH domain
Date 31-May-2002 (Rel. 3, Created)
Date 31-May-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 12209
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0015: 829
Feature /codon: tta -> tca; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P29965; CD40L_HUMAN: 258
Feature /change: L -> S
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Caucasoid
Relative Other affected family members: Yes
Relative CD40L; C0090
Treatment IVIG: constant
Treatment Still on IVIG
//
ID #L259X312(1); standard; MUTATION; TNFH
Accession C0051
Systematic name g.12212delT, c.832delT, p.L259fsX312
Description Deletion in the exon 5 leading to a premature stop codon
Description in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (3-Nov-1997) to CD40Lbase.
RefLoc M., Abinun, Newcastle, UK
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 12212
Feature /change: -t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 832
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 259
Feature /change: L
Feature /change: -> PNSEQCHLAG CGGRDAGSLH NTAQRLSPPP VNCLFITLGS
Feature /change: SLWRTIYYTL QGMX
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 25/7/94
Relative Other affected family members: Yes; phenotype:milder
Diagnosis Date: 15/11/94
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: cause unknown
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: Not searched
Symptoms Anti-neutrophil antibodies: Not searched
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: No
Symptoms Other clinical features: "recurrent urticaria; previous
Symptoms seizures;delopmental delay ? hypoxic seizures"
Treatment IVIG: Constant
Treatment date started: 15/1/95
Treatment Still on IVIG, dose: 80mg/Kg/ 1 weeks
Treatment responding to infection: good
Treatment responding to neutropenia: no effect
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment G-CSF: constant
Treatment Effect on neutrophil count: good
Treatment dose: 15µg/Kg/ 1 day(s)
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 15/11/94
IgA 0 mg/dL
IgG 2,85 mg/dL
IgM 1,3 mg/dL
Lymphocytes Lymphocytes
Lymphocytes most recent:
Lymphocytes total B: 0/mm3
//
ID Upstream(1); standard; MUTATION;
Accession C0218
Original code F
Description Point mutation in the promoter region 135 bp to upstream
Description from cDNA start point
Date 15-Mar-2007 (Rel. 1, Created)
Date 15-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17244160
RefAuthors van Hoeyveld, E., Zhang, P. X., De Boeck, K., Fuleihan,
RefAuthors R., Bossuyt, X.
RefTitle Hyper-immunoglobulin M syndrome caused by a mutation in
RefTitle the promotor for CD40L.
RefLoc Immunology:497-501 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 865
Feature /change: a -> c
Feature /genomic_region: promoter
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: upstream
Feature /inexloc: -135
Feature aa; 3
Feature /rnalink: 2
Feature /name: no translation
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia: Pneumocystis Symptoms carinii
Sex XY
Ethnic origin Caucasoid; Italy
Protein Defects of CD40L expression
Parents Non-consanguineous
Treatment IVIG: intermittent
//
ID Intron 1(1a); standard; MUTATION; ECU
Accession C0115
Systematic name g.IVS1+1G>T, c.156+1G>T, r.156+1g>u,
Original code DS
Description Point mutation in the intron 1 leading to an amino acid
Description change in the ECU domain
Date 26-Jul-2002 (Rel. 3, Created)
Date 26-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
RefNumber [2]
RefCrossRef PUBMED; 7678782
RefAuthors Aruffo, A., Farrington, M., Hollenbaugh, D., Li, X.,
RefAuthors Milatovich, A., Nonoyama, S., Bajorath, J., Grosmaire, L.
RefAuthors S., Stenkamp, R., Neubauer, M.
RefTitle The CD40 ligand, gp39, is defective in activated T cells
RefTitle from patients with X-linked hyper-IgM syndrome.
RefLoc Cell 72:291-300 (1993)
Feature dna; 1
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1212
Feature /change: g -> t
Feature /genomic_region: intron; 1
Feature dna; 2
Feature /rnalink: 6
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1212
Feature /change: g -> t
Feature /genomic_region: intron; 1
Feature dna; 3
Feature /rnalink: 7
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1212
Feature /change: g -> t
Feature /genomic_region: intron; 1
Feature dna; 4
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1212
Feature /change: g -> t
Feature /genomic_region: intron; 1
Feature rna; 5
Feature /dnalink: 1
Feature /aalink: 9
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 131..212
Feature /change: -gtatttactt actgtttttc ttatcaccca gatgattggg
Feature /change: tcagcacttt ttgctgtgta tcttcataga aggctggaca
Feature /change: ag
Feature rna; 6
Feature /dnalink: 2
Feature /aalink: 10
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 170..212
Feature /change: -gtcagcactt tttgctgtgt atcttcatag aaggctggac
Feature /change: aag
Feature rna; 7
Feature /dnalink: 3
Feature /aalink: 11
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 203..212
Feature /change: -gctggacaag
Feature rna; 8
Feature /dnalink: 4
Feature /aalink: 12
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 203..216
Feature /change: -gctggacaag atag
Feature /inexloc: +1
Feature /note: also wild type mRNA detected
Feature aa; 9
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 25..52
Feature /change: MYLLTVFLIT QMIGSALFAV YLHRRLDK -> IX
Feature /domain: TM
Feature aa; 10
Feature /rnalink: 6
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 38..52
Feature /change: GSALFAVYLH RRLDK -> GX
Feature /domain: TM
Feature aa; 11
Feature /rnalink: 7
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 49..52
Feature /change: RLDK -> RX
Feature /domain: ECU
Feature aa; 12
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 49..54
Feature /change: RLDKIE -> RRX
Feature /domain: ECU
Protein CD40L mutation
Sex XY
Ethnic origin Caucasoid
Relative CD40Lbase; C0116 cousin
Relative CD40Lbase; C0117
Relative Other affected family members: Yes
Status quo Deceased; cause of death: lymphoma
Symptoms Liver/biliary tract abnormalities
Symptoms Sclerosing cholangitis
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Other clinical features: Atypical carcinoid (duodenum with
Symptoms liver, lymph node metastases)
Treatment IVIG: constant
//
ID Intron 1(1b); standard; MUTATION; ECU
Accession C0116
Systematic name g.IVS1+1G>T, c.156+1G>T, r.156+1g>u,
Original code GS
Description Point mutation in the intron 1 leading to an amino acid
Description change in the ECU domain
Date 26-Jul-2002 (Rel. 3, Created)
Date 26-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
RefNumber [2]
RefCrossRef PUBMED; 7678782
RefAuthors Aruffo, A., Farrington, M., Hollenbaugh, D., Li, X.,
RefAuthors Milatovich, A., Nonoyama, S., Bajorath, J., Grosmaire, L.
RefAuthors S., Stenkamp, R., Neubauer, M.
RefTitle The CD40 ligand, gp39, is defective in activated T cells
RefTitle from patients with X-linked hyper-IgM syndrome.
RefLoc Cell 72:291-300 (1993)
Feature dna; 1
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1212
Feature /change: g -> t
Feature /genomic_region: intron; 1
Feature dna; 2
Feature /rnalink: 6
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1212
Feature /change: g -> t
Feature /genomic_region: intron; 1
Feature dna; 3
Feature /rnalink: 7
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1212
Feature /change: g -> t
Feature /genomic_region: intron; 1
Feature dna; 4
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1212
Feature /change: g -> t
Feature /genomic_region: intron; 1
Feature rna; 5
Feature /dnalink: 1
Feature /aalink: 9
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 131..212
Feature /change: -gtatttactt actgtttttc ttatcaccca gatgattggg
Feature /change: tcagcacttt ttgctgtgta tcttcataga aggctggaca
Feature /change: ag
Feature rna; 6
Feature /dnalink: 2
Feature /aalink: 10
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 170..212
Feature /change: -gtcagcactt tttgctgtgt atcttcatag aaggctggac
Feature /change: aag
Feature rna; 7
Feature /dnalink: 3
Feature /aalink: 11
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 203..212
Feature /change: -gctggacaag
Feature rna; 8
Feature /dnalink: 4
Feature /aalink: 12
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 203..216
Feature /change: -gctggacaag atag
Feature /inexloc: +1
Feature /note: also wild type mRNA detected
Feature aa; 9
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 25..52
Feature /change: MYLLTVFLIT QMIGSALFAV YLHRRLDK -> IX
Feature /domain: TM
Feature aa; 10
Feature /rnalink: 6
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 38..52
Feature /change: GSALFAVYLH RRLDK -> GX
Feature /domain: TM
Feature aa; 11
Feature /rnalink: 7
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 49..52
Feature /change: RLDK -> RX
Feature /domain: ECU
Feature aa; 12
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 49..54
Feature /change: RLDKIE -> RRX
Feature /domain: ECU
Protein CD40L mutation
Sex XY
Ethnic origin Caucasoid
Relative CD40Lbase; C0115 cousin
Relative CD40Lbase; C0117
Relative Other affected family members: Yes
Status quo Deceased; cause of death: carcinoid
Symptoms Liver/biliary tract abnormalities
Symptoms Cirrhosis
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Other clinical features: Cholangiolitis
Treatment IVIG: constant
Treatment Prophylactic medication
Treatment Other:granulocyte colony-stimulation factor
//
ID Intron 1(1c); standard; MUTATION; ECU
Accession C0117
Systematic name g.IVS1+1G>T, c.156+1G>T, r.156+1g>u,
Original code DB
Description Point mutation in the intron 1 leading to an amino acid
Description change in the ECU domain
Date 26-Jul-2002 (Rel. 3, Created)
Date 26-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1212
Feature /change: g -> t
Feature /genomic_region: intron; 1
Feature dna; 2
Feature /rnalink: 6
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1212
Feature /change: g -> t
Feature /genomic_region: intron; 1
Feature dna; 3
Feature /rnalink: 7
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1212
Feature /change: g -> t
Feature /genomic_region: intron; 1
Feature dna; 4
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1212
Feature /change: g -> t
Feature /genomic_region: intron; 1
Feature rna; 5
Feature /dnalink: 1
Feature /aalink: 9
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 131..212
Feature /change: -gtatttactt actgtttttc ttatcaccca gatgattggg
Feature /change: tcagcacttt ttgctgtgta tcttcataga aggctggaca
Feature /change: ag
Feature rna; 6
Feature /dnalink: 2
Feature /aalink: 10
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 170..212
Feature /change: -gtcagcactt tttgctgtgt atcttcatag aaggctggac
Feature /change: aag
Feature rna; 7
Feature /dnalink: 3
Feature /aalink: 11
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 203..212
Feature /change: -gctggacaag
Feature rna; 8
Feature /dnalink: 4
Feature /aalink: 12
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 203..216
Feature /change: -gctggacaag atag
Feature /inexloc: +1
Feature /note: also wild type mRNA detected
Feature aa; 9
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 25..52
Feature /change: MYLLTVFLIT QMIGSALFAV YLHRRLDK -> IX
Feature /domain: TM
Feature aa; 10
Feature /rnalink: 6
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 38..52
Feature /change: GSALFAVYLH RRLDK -> GX
Feature /domain: TM
Feature aa; 11
Feature /rnalink: 7
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 49..52
Feature /change: RLDK -> RX
Feature /domain: ECU
Feature aa; 12
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 49..54
Feature /change: RLDKIE -> RRX
Feature /domain: ECU
Protein CD40L mutation
Sex XY
Ethnic origin Caucasoid
Relative CD40Lbase; C0115
Relative CD40Lbase; C0116
Relative Other affected family members: Yes
Treatment IVIG: constant
//
ID Intron 1(2); standard; MUTATION; ECU
Accession C0158
Systematic name g.IVS1+1G>A, c.156+1G>A, r.156+1g>a,
Original code Patient 5
Description A point mutation in the intron 1 leading to an amino acid
Description change in the ECU domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1212
Feature /change: g -> a
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 131..212
Feature /change: -gtatttactt actgtttttc ttatcaccca gatgattggg
Feature /change: tcagcacttt ttgctgtgta tcttcataga aggctggaca ag
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 25..52
Feature /change: MYLLTVFLIT QMIGSALFAV YLHRRLDK -> IX
Feature /domain: ECU
Sex XY
//
ID Intron 1(3); standard; MUTATION; ECU
Accession C0159
Systematic name g.IVS1+1G>T, c.156+1G>T, r.156+1g>u,
Original code Patient 6
Description A point mutation in the intron 1 leading to an amino acid
Description change in the ECU domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1212
Feature /change: g -> t
Feature /genomic_region: intron; 1
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1212
Feature /change: g -> t
Feature /genomic_region: intron; 1
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 131..212
Feature /change: -gtatttactt actgtttttc ttatcaccca gatgattggg
Feature /change: tcagcacttt ttgctgtgta tcttcataga aggctggaca ag
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 203..212
Feature /change: -gctggacaag
Feature /inexloc: +1
Feature /note: also wild type mRNA detected
Feature aa; 5
Feature /rnalink: 3
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 25..52
Feature /change: MYLLTVFLIT QMIGSALFAV YLHRRLDK -> IX
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 49..52
Feature /change: RLDK -> RX
Feature /domain: ECU
Sex XY
//
ID Intron 1(4); standard; MUTATION; ECU
Accession C0160
Systematic name g.IVS1+1G>T, c.156+1G>T, r.156+1g>u,
Original code Patient 8
Description A point mutation in the intron 1 leading to an amino acid
Description change in the ECU domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1212
Feature /change: g -> t
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 131..212
Feature /change: -gtatttactt actgtttttc ttatcaccca gatgattggg
Feature /change: tcagcacttt ttgctgtgta tcttcataga aggctggaca ag
Feature /inexloc: +1
Feature /note: also wild type mRNA detected
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 25..52
Feature /change: MYLLTVFLIT QMIGSALFAV YLHRRLDK -> IX
Feature /domain: ECU
Sex XY
//
ID Intron 1(5); standard; MUTATION; ECU
Accession C0194
Systematic name g.IVS1-5AATAGATAG>, c.157-5AATAGATAG>, r.157-5aauagauag>,
Original code patient 11
Description A deletion in the intron 1 leading to an amino acid change
Description in the ECU domain
Date 12-Nov-2004 (Rel. 3, Created)
Date 12-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 3068..3076
Feature /change: -aatagatag
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 213..216
Feature /change: -atag
Feature /inexloc: -5
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 53..54
Feature /change: IE -> KMKGIFMKIL YSX
Feature /domain: ECU
//
ID Intron 1(6); standard; MUTATION; ECU
Accession C0195
Systematic name g.IVS1-4ATAGATAG>, c.157-4ATAGATAG>, r.157-4auagauag>,
Original code patient 13
Description A deletion in the intron 1 leading to an amino acid change
Description in the ECU domain
Date 12-Nov-2004 (Rel. 3, Created)
Date 12-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 3069..3076
Feature /change: -atagatag
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 213..216
Feature /change: -atag
Feature /inexloc: -4
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 53..54
Feature /change: IE -> KMKGIFMKIL YSX
Feature /domain: ECU
//
ID Intron 1(7); standard; MUTATION; ECU
Accession C0247
Systematic name g.1213T>C, c.156+2T>C, r.156+2u>c
Original code P1
Description A point mutation in the intron 1 leading to aberrant
Description splicing
Date 06-Aug-2010 (Rel. 1, Created)
Date 06-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19575287
RefAuthors Aghamohammadi, A., Parvaneh, N., Rezaei, N., Moazzami, K.,
RefAuthors Kashef, S., Abolhassani, H., Imanzadeh, A., Mohammadi, J.,
RefAuthors Hammarstrom, L.
RefTitle Clinical and laboratory findings in hyper-igM syndrome
RefTitle with novel CD40L and AICDA mutations.
RefLoc J Clin Immunol:769-776 (2009)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 1213
Feature /change: t -> c
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: ECU
Symptoms Pneumonia; Otitis media; Diarrhea; Oral ulcer; Atrophic
Symptoms tonsils; Hepatosplenomegaly; Immune thrombocytopenic
Symptoms purpura; Chronic active hepatitis;
Sex XY
Parents Consanguineous
IgA 110 mg/dl
IgG 120 mg/dl
IgM 82 mg/dl
Comment Patient died at age 18 years.
//
ID Intron 2(1); standard; MUTATION; ECU
Accession C0035
Systematic name g.IVS2+1G>T
Description Point mutation in the intron 2 leading to an amino acid
Description change in the ECU domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc A., Fischer, Paris, France
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 3205
Feature /change: g -> t
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: ECU
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 15/6/91
Diagnosis Date: 1/1/92
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Hematological abnormalities
Symptoms Neutropenia: intermittent
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: No
Symptoms Anti-neutrophil antibodies: No
Symptoms Anti-platelet antibodies: No
Symptoms Coombs positivity: No
Treatment IVIG: Constant
Treatment date started: 1/1/92
Treatment Still on IVIG, dose: 200mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment responding to neutropenia: good
Treatment responding to serum IgM levels: good
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment antibiotics: intermittent
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 1/1/92
IgA 1,98 mg/dL
IgG 0,6 mg/dL
IgM 13 mg/dL
Response Antibody responses
Response D/T: absent
Response PPS: absent
Response Isoagglutinins: anti-A: 0; anti-B: 0
Lymphocytes Lymphocytes
Lymphocytes at diagnosis:
Lymphocytes total B: 0/mm3
//
ID Intron 2(2); standard; MUTATION; ECU
Accession C0134
Systematic name g.IVS2+1G>A
Original code TA; TaA[2]
Description Point mutation in the intron 2 leading to aberrant splicing
Date 07-Apr-2003 (Rel. 3, Created)
Date 07-Apr-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9150729
RefAuthors Nonoyama, S., Shimadzu, M., Toru, H., Seyama, K., Nunoi,
RefAuthors H., Neubauer, M., Yata, J., Och, H. D.
RefTitle Mutations of the CD40 ligand gene in 13 japanese patients
RefTitle with X-linked hyper-igM syndrome.
RefLoc Hum Genet 99:624-627 (1997)
RefNumber [2]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper igM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IDRefSeq: D0015: 3205
Feature /change: g -> a
Feature /genomic_region: intron; 2
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0015: 3205
Feature /change: g -> a
Feature /genomic_region: intron; 2
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0015: 213..344
Feature /change: -atagaagatg aaaggaatct tcatgaagat tttgtattca
Feature /change: tgaaaacgat acagagatgc aacacaggag aaagatcctt
Feature /change: atccttactg aactgtgagg agattaaaag ccagtttgaa
Feature /change: ggctttgtga ag
Feature /note: exon 2 skipping
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: insertion
Feature /loc: IDRefSeq: C0015: 345
Feature /change: +ataagcagct taattactg
Feature aa; 5
Feature /rnalink: 3
Feature /name: deletion; inframe
Feature /loc: UniProt: P29965; CD40L_HUMAN: 53..96
Feature /change:
Feature /change: -IEDERNLHED FVFMKTIQRC NTGERSLSLL NCEEIKSQFE
Feature /change: GFVK
Feature /domain: ECU
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 97
Feature /change: D -> ISSLITGYNV KQRGDEERKQ LX
Feature /domain: ECU
Sex XY
Ethnic origin Mongoloid
Relative CD40Lbase; C0135
Treatment IVIG: constant
Treatment Still on IVIG
//
ID Intron 2(3); standard; MUTATION; ECU
Accession C0135
Systematic name g.IVS2+1G>A
Original code YA
Description Point mutation in the intron 2 leading to aberrant splicing
Date 07-Apr-2003 (Rel. 3, Created)
Date 07-Apr-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper igM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
RefNumber [2]
RefCrossRef PUBMED; 9150729
RefAuthors Nonoyama, S., Shimadzu, M., Toru, H., Seyama, K., Nunoi,
RefAuthors H., Neubauer, M., Yata, J., Och, H. D.
RefTitle Mutations of the CD40 ligand gene in 13 japanese patients
RefTitle with X-linked hyper-igM syndrome.
RefLoc Hum Genet 99:624-627 (1997)
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IDRefSeq: D0015: 3205
Feature /change: g -> a
Feature /genomic_region: intron; 2
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0015: 3205
Feature /change: g -> a
Feature /genomic_region: intron; 2
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0015: 213..344
Feature /change: -atagaagatg aaaggaatct tcatgaagat tttgtattca
Feature /change: tgaaaacgat acagagatgc aacacaggag aaagatcctt
Feature /change: atccttactg aactgtgagg agattaaaag ccagtttgaa
Feature /change: ggctttgtga ag
Feature /note: exon 2 skipping
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: insertion
Feature /loc: IDRefSeq: C0015: 345
Feature /change: +ataagcagct taattactg
Feature aa; 5
Feature /rnalink: 3
Feature /name: deletion; inframe
Feature /loc: UniProt: P29965; CD40L_HUMAN: 53..96
Feature /change:
Feature /change: -IEDERNLHED FVFMKTIQRC NTGERSLSLL NCEEIKSQFE
Feature /change: GFVK
Feature /domain: ECU
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 97
Feature /change: D -> ISSLITGYNV KQRGDEERKQ LX
Feature /domain: ECU
Sex XY
Ethnic origin Mongoloid
Relative CD40Lbase; C0134
Treatment IVIG: constant
Treatment Still on IVIG
//
ID Intron 2(4); standard; MUTATION; ECU
Accession C0136
Systematic name g.IVS2+2T>A
Original code PS
Description Point mutation in the intron 2 leading to aberrant splicing
Date 07-Apr-2003 (Rel. 3, Created)
Date 07-Apr-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9150729
RefAuthors Nonoyama, S., Shimadzu, M., Toru, H., Seyama, K., Nunoi,
RefAuthors H., Neubauer, M., Yata, J., Och, H. D.
RefTitle Mutations of the CD40 ligand gene in 13 japanese patients
RefTitle with X-linked hyper-igM syndrome.
RefLoc Hum Genet 99:624-627 (1997)
RefNumber [2]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper igM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IDRefSeq: D0015: 3206
Feature /change: t -> a
Feature /genomic_region: intron; 2
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0015: 3206
Feature /change: t -> a
Feature /genomic_region: intron; 2
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0015: 213..344
Feature /change: -atagaagatg aaaggaatct tcatgaagat tttgtattca
Feature /change: tgaaaacgat acagagatgc aacacaggag aaagatcctt
Feature /change: atccttactg aactgtgagg agattaaaag ccagtttgaa
Feature /change: ggctttgtga ag
Feature /note: exon 2 skipping
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: insertion
Feature /loc: IDRefSeq: C0015: 345
Feature /change: +ataagcagct taattactg
Feature aa; 5
Feature /rnalink: 3
Feature /name: deletion; inframe
Feature /loc: UniProt: P29965; CD40L_HUMAN: 53..96
Feature /change:
Feature /change: -IEDERNLHED FVFMKTIQRC NTGERSLSLL NCEEIKSQFE
Feature /change: GFVK
Feature /domain: ECU
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 97
Feature /change: D -> ISSLITGYNV KQRGDEERKQ LX
Feature /domain: ECU
Sex XY
Ethnic origin Caucasoid
Treatment IVIG: constant
Treatment Still on IVIG
//
ID Intron 3(1); standard; MUTATION; ECU
Accession C0012
Systematic name g.IVS3+4G>C
Description Point mutation in the intron 3 leading to an amino acid
Description change in the ECU domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (7-Nov-1996) to CD40Lbase.
RefLoc L., Notarangelo, Brescia, Italy
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 7241
Feature /change: g -> c
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +4
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: ECU
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 23/6/88
Diagnosis Date: 2/7/96
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Hematological abnormalities
Symptoms Neutropenia
Treatment IVIG: Constant
Treatment date started: 8/7/96
Treatment Still on IVIG, dose: 400mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment responding to neutropenia: good
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 2/7/96
IgA 0,05 mg/dL
IgG 0,18 mg/dL
IgM 1,56 mg/dL
Response Antibody responses
Response D/T, date: 2/7/96: low
Response PPS: not done
Response HiB: not done
Response Pneumococcus, 2date: 2/7/96: low
Response Blood group: A+
Response Isoagglutinins: anti-B: 0,25
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 2/7/96
Lymphocytes total lymphocytes: 3200/mm3
Lymphocytes total CD4: 1250/mm3
Lymphocytes total CD8: 540/mm3
Lymphocytes total B: 600/mm3
Lymphocytes most recent: 25/2/98
Lymphocytes total lymphocytes: 3066/mm3
Lymphocytes total CD4: 1336/mm3
Lymphocytes total CD8: 760/mm3
Lymphocytes total B: 334/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 14/10/96: normal
Lymphocytes anti-CD3, date: 14/10/96: normal
Lymphocytes antigens, date: 14/10/96: not done
Lymphocytes alloantigens: not done
//
ID Intron 3(2); standard; MUTATION; ECU
Accession C0021
Systematic name g.IVS3+5G>T
Description Point mutation in the intron 3 leading to an amino acid
Description change in the ECU domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (20-Mar-1996) to CD40Lbase.
RefLoc A., Etzioni, Haifa, Israel
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 7242
Feature /change: g -> t
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: ECU
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 11/5/78
Relative Other affected family members: Yes; phenotype:same
Diagnosis Date: 15/11/82
Status quo Deceased
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Hematological abnormalities
Symptoms Anemia
Symptoms Autoimmune manifestations
Symptoms Other clinical manifestations: Pure red cell aplasia due
Symptoms to autoantibodies to red cell precursor responding to ivig
Symptoms Other autoantibodies: Pure red cell aplasia due to
Symptoms autoantibodies to red cell precursor responding to ivig
Symptoms Other clinical features: Splenomegaly
Treatment IVIG: Intermittent
Treatment date started: 15/4/83
Treatment Still on IVIG
Treatment responding to infection: good
Treatment responding to serum IgM levels: no effect
Treatment Prophylactic medication
Treatment antibiotics: never
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 15/11/82
IgA 0 mg/dL
IgG 0,9 mg/dL
IgM 5,2 mg/dL
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: absent
Response Mumps: absent
Response Measles: absent
Response Blood group: B+
Response Isoagglutinins: anti-A: 0,031
Lymphocytes Lymphocytes
Lymphocytes most recent: 27/12/95
Lymphocytes total lymphocytes: 3250/mm3
Lymphocytes total CD4: 2850/mm3
Lymphocytes total CD8: 1250/mm3
Lymphocytes total B: 350/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 10/12/93: normal
Lymphocytes anti-CD3, date: 10/12/93: normal
Lymphocytes antigens, date: 10/12/93: not done
Lymphocytes alloantigens: not done
//
ID Intron 3(3); standard; MUTATION; ECU
Accession C0022
Systematic name g.IVS3+5G>T
Description Point mutation in the intron 3 leading to an amino acid
Description change in the ECU domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (20-Mar-1996) to CD40Lbase.
RefLoc A., Etzioni, Haifa, Israel
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 7242
Feature /change: g -> t
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: ECU
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 11/5/78
Relative Other affected family members: Yes; phenotype:same
Diagnosis Date: 15/11/82
Status quo Deceased
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Hematological abnormalities
Symptoms Neutropenia
Symptoms Anemia
Symptoms Autoimmune manifestations
Symptoms Other clinical manifestations: Pure red cell aplasia due
Symptoms to autoantibodies to red cell precursor responding to ivig
Symptoms Other autoantibodies: Pure red cell aplasia due to
Symptoms autoantibodies to red cell precursor responding to ivig
Symptoms Other clinical features: Splenomegaly
Treatment IVIG: Intermittent
Treatment date started: 15/4/83
Treatment Still on IVIG
Treatment responding to infection: good
Treatment responding to serum IgM levels: no effect
Treatment Prophylactic medication
Treatment antibiotics: never
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 15/11/82
IgA 0 mg/dL
IgG 1,2 mg/dL
IgM 4,8 mg/dL
Response Antibody responses
Response HiB: absent
Response Mumps: absent
Response Measles: absent
Response Blood group: B+
Response Isoagglutinins: anti-A: 0,031
Lymphocytes Lymphocytes
Lymphocytes most recent: 27/12/95
Lymphocytes total lymphocytes: 3500/mm3
Lymphocytes total CD4: 2700/mm3
Lymphocytes total CD8: 1200/mm3
Lymphocytes total B: 400/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 10/12/93: normal
Lymphocytes anti-CD3, date: 10/12/93: normal
Lymphocytes antigens, date: 10/12/93: not done
Lymphocytes alloantigens: not done
//
ID Intron 3(4); standard; MUTATION; ECU
Accession C0023
Systematic name g.IVS3+5G>T
Description Point mutation in the intron 3 leading to an amino acid
Description change in the ECU domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc A., Etzioni, Haifa, Israel
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 7242
Feature /change: g -> t
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: ECU
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Date of birth 1/2/90
Relative Other affected family members: Yes; phenotype:same
Diagnosis Date: 16/7/91
Status quo Deceased
Symptoms Lower respiratory tract infections
Symptoms No evidence for interstitial pneumonia
Symptoms Hematological abnormalities
Symptoms Anemia
Symptoms Autoimmune manifestations
Symptoms Other clinical manifestations: Pure red cell aplasia due
Symptoms to autoantibodies to red cell precursor responding to ivig
Symptoms Anti-nuclear antibodies: No
Symptoms Anti-neutrophil antibodies: No
Symptoms Anti-platelet antibodies: No
Symptoms Coombs positivity: No
Symptoms Other autoantibodies: Pure red cell aplasia due to
Symptoms autoantibodies to red cell precursor responding to ivig
Treatment IVIG: Intermittent
Treatment Still on IVIG, dose: 400mg/Kg/ 26 weeks
Treatment responding to serum IgM levels: no effect
Treatment Prophylactic medication
Treatment antibiotics: never
Treatment G-CSF: never
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 16/7/91
IgA 0 mg/dL
IgE 30 kU/L
IgG 0 mg/dL
IgM 2 mg/dL
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: absent
Response Mumps: absent
Response Measles: absent
Response Blood group: B+
Response Isoagglutinins: anti-A: 0,0625
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 16/8/91
Lymphocytes total lymphocytes: 3600/mm3
Lymphocytes total CD4: 3000/mm3
Lymphocytes total CD8: 1700/mm3
Lymphocytes total B: 500/mm3
Lymphocytes most recent: 27/12/95
Lymphocytes total lymphocytes: 3400/mm3
Lymphocytes total CD4: 2700/mm3
Lymphocytes total CD8: 1850/mm3
Lymphocytes total B: 700/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 10/4/92: normal
Lymphocytes anti-CD3, date: 10/4/92: normal
Lymphocytes antigens, date: 10/4/92: not done
Lymphocytes alloantigens: not done
//
ID Intron 3(5); standard; MUTATION; ECU
Accession C0068
Systematic name g.IVS3+2T>C
Description Point mutation in the intron 3 leading to an amino acid
Description change in the ECU domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (11-May-1996) to CD40Lbase.
RefLoc T., Abrahamsen, Oslo, Norway
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 7239
Feature /change: t -> c
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: ECU
Protein CD40L mutation
Date of birth 21/10/88
Diagnosis Date: 15/4/89
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: PCP
Symptoms Hematological abnormalities
Symptoms Neutropenia: chronic
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: Not searched
Symptoms Anti-neutrophil antibodies: No
Symptoms Anti-platelet antibodies: No
Symptoms Coombs positivity: Not searched
Treatment IVIG: Constant
Treatment date started: 27/6/89
Treatment Still on IVIG, dose: 400mg/Kg/
Treatment responding to infection: good
Treatment responding to neutropenia: no effect
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment antibiotics: constant
Treatment G-CSF: constant
Treatment Effect on neutrophil count: good
Treatment dose: 1,7µg/Kg/ 1 day(s)
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 26/6/89
IgA 0,1 mg/dL
IgG 0 mg/dL
IgM 1,1 mg/dL
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 17/10/89
Lymphocytes total lymphocytes: 7000/mm3
Lymphocytes total CD4: 2900/mm3
Lymphocytes total CD8: 900/mm3
Lymphocytes total B: 1100/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 25/8/92: normal
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
//
ID Intron 3(6); standard; MUTATION; ECU
Accession C0129
Systematic name g.IVS3+2T>C
Original code MS
Description Point mutation in the intron 3 leading to skipping of exon Description 3
Date 07-Apr-2003 (Rel. 3, Created)
Date 07-Apr-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper igM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 7239
Feature /change: t -> c
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 345..402
Feature /change: -gatataatgt taaacaaaga ggagacgaag aaagaaaaca
Feature /change: gctttgaaat gcaaaaag
Feature /note: skipping exon 3
Feature /note: also wild type mRNA detected
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 97..116
Feature /change: DIMLNKEETK KENSFEMQKG -> VIRILKLRHM SX
Feature /domain: ECU
Feature /note: also wild type CD40L detected
Sex XY
Ethnic origin Negroid
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia: PCP
Treatment IVIG: constant
Treatment Still on IVIG
Treatment Bone marrow transplantation: Yes
//
ID Intron 3(7); standard; MUTATION; ECU
Accession C0130
Systematic name g.IVS3+5G>A
Original code JE
Description Point mutation in the intron 3 leading to skipping of exon Description 3
Date 07-Apr-2003 (Rel. 3, Created)
Date 07-Apr-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper igM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 7242
Feature /change: g -> a
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 345..402
Feature /change: -gatataatgt taaacaaaga ggagacgaag aaagaaaaca
Feature /change: gctttgaaat gcaaaaag
Feature /note: skipping exon 3
Feature /note: also wild type mRNA detected
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 97..116
Feature /change: DIMLNKEETK KENSFEMQKG -> VIRILKLRHM SX
Feature /domain: ECU
Feature /note: also wild type CD40L detected
Sex XY
Ethnic origin Caucasoid
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia: PCP
Treatment IVIG: constant
Treatment Still on IVIG
//
ID Intron 3(10); standard; MUTATION; ECU
Accession C0141
Systematic name g.IVS3-1G>A, c.347-1G>A, r.347-1g>a,
Original code RPF
Description A point mutation in the intron 3 leading to aberrant
Description splicing
Date 26-Apr-2004 (Rel. 3, Created)
Date 26-Apr-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12952351
RefAuthors Garcia-Perez, M. A., Paz-Artal, E., Corell, A., Moreno,
RefAuthors A., Lopez-Goyanes, A., Garcia-Martin, F., Vazquez, R.,
RefAuthors Pacho, A., Romo, E., Allende, L. M.
RefTitle Mutations of CD40 ligand in two patients with hyper-igM
RefTitle syndrome.
RefLoc Immunobiology 207:285-294 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9162
Feature /change: g -> a
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0015: 403..465
Feature /change: -gtgatcagaa tcctcaaatt gcggcacatg tcataagtga
Feature /change: ggccagcagt aaaacaacat ctg
Feature /inexloc: -1
Feature /note: skipping of exon 4
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116..137
Feature /change: GDQNPQIAAH VISEASSKTT SV -> V
Feature /domain: ECU
Sex XY
Symptoms Sepsis
Symptoms Other clinical features: pneumonia, episodes of bacterial
Symptoms infections, otitis media
Treatment IVIG: constant
//
ID Intron 3(11); standard; MUTATION; ECU
Accession C0144
Systematic name g.IVS3+1G>T, c.346+1G>T, r.346+1g>u,
Original code patient 22
Description A point mutation in the intron 3 leading to an amino acid
Description change in the ECU domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14514918
RefAuthors Gilmour, K. C., Walshe, D., Heath, S., Monaghan, G.,
RefAuthors Loughlin, S., Lester, T., Norbury, G., Cale, C. M.
RefTitle Immunological and genetic analysis of 65 patients with a
RefTitle clinical suspicion of X linked hyper-igM.
RefLoc Mol Pathol 56:256-262 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 7238
Feature /change: g -> t
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: ECU
Sex XY
//
ID Intron 3(12); standard; MUTATION; ECU
Accession C0163
Systematic name g.IVS3+1G>A, c.346+1G>A, r.346+1g>a,
Original code Patient 21
Description A point mutation in the intron 3 leading to an amino acid
Description change in the ECU domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 7238
Feature /change: g -> a
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 345..402
Feature /change: -gatataatgt taaacaaaga ggagacgaag aaagaaaaca
Feature /change: gctttgaaat gcaaaaag
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 97..116
Feature /change: DIMLNKEETK KENSFEMQKG -> VIRILKLRHM SX
Feature /domain: ECU
Sex XY
//
ID Intron 3(13); standard; MUTATION; ECU
Accession C0164
Systematic name g.IVS3+1G>A, c.346+1G>A, r.346+1g>a,
Original code Patient 22
Description A point mutation in the intron 3 leading to an amino acid
Description change in the ECU domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 7238
Feature /change: g -> a
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 345..402
Feature /change: -gatataatgt taaacaaaga ggagacgaag aaagaaaaca
Feature /change: gctttgaaat gcaaaaag
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 97..116
Feature /change: DIMLNKEETK KENSFEMQKG -> VIRILKLRHM SX
Feature /domain: ECU
Sex XY
//
ID Intron 3(14); standard; MUTATION; ECU
Accession C0165
Systematic name g.IVS3+1G>A, c.346+1G>A, r.346+1g>a,
Original code Patient 23
Description A point mutation in the intron 3 leading to an amino acid
Description change in the ECU domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 7238
Feature /change: g -> a
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 345..402
Feature /change: -gatataatgt taaacaaaga ggagacgaag aaagaaaaca
Feature /change: gctttgaaat gcaaaaag
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 97..116
Feature /change: DIMLNKEETK KENSFEMQKG -> VIRILKLRHM SX
Feature /domain: ECU
Sex XY
//
ID Intron 3(15a); standard; MUTATION; ECU
Accession C0167
Systematic name g.IVS3-1G>A, c.347-1G>A, r.347-1g>a,
Original code Patient 28 a
Description A point mutation in the intron 3 leading to an amino acid
Description change in the ECU domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9162
Feature /change: g -> a
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /change: -gtgatcagaa tcctcaaatt gcggcacatg tcataagtga
Feature /change: ggccagcagt aaaacaacat ctg
Feature /loc: IDRefSeq: C0015: 403..465
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116..137
Feature /change: GDQNPQIAAH VISEASSKTT SV -> V
Feature /domain: ECU
Sex XY
Relative CD40Lbase; C0168
//
ID Intron 3(15b); standard; MUTATION; ECU
Accession C0168
Systematic name g.IVS3-1G>A, c.347-1G>A, r.347-1g>a,
Original code Patient 28 b
Description A point mutation in the intron 3 leading to an amino acid
Description change in the ECU domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9162
Feature /change: g -> a
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0015: 403..465
Feature /change: -gtgatcagaa tcctcaaatt gcggcacatg tcataagtga
Feature /change: ggccagcagt aaaacaacat ctg
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116..137
Feature /change: GDQNPQIAAH VISEASSKTT SV -> V
Feature /domain: ECU
Sex XY
Relative CD40Lbase; C0167
//
ID Intron 3(16); standard; MUTATION; ECU
Accession C0166
Systematic name g.IVS3+1G>, c.346+1G>, r.346+1g>,
Original code Patient 24
Description A deletion in the intron 3 leading to an amino acid change
Description in the ECU domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 7238
Feature /change: g -> a
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 345..402
Feature /change: -gatataatgt taaacaaaga ggagacgaag aaagaaaaca
Feature /change: gctttgaaat gcaaaaag
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 97..116
Feature /change: DIMLNKEETK KENSFEMQKG -> VIRILKLRHM SX
Feature /domain: ECU
Sex XY
//
ID Intron 3(17); standard; MUTATION; ECU
Accession C0169
Systematic name g.IVS3-1G>C, c.347-1G>C, r.347-1g>c,
Original code Patient 29
Description A point mutation in the intron 3 leading to an amino acid
Description change in the ECU domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 19-Oct-2007 (Rel. 3, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9162
Feature /change: g -> c
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0015: 403..465
Feature /change: -gtgatcagaa tcctcaaatt gcggcacatg tcataagtga
Feature /change: ggccagcagt aaaacaacat ctg
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116..137
Feature /change: GDQNPQIAAH VISEASSKTT SV -> V
Feature /domain: ECU
Sex XY
//
ID Intron 3(18); standard; MUTATION; ECU
Accession C0199
Systematic name g.IVS3-915A>T, c.347-915A>T, r.347-915a>u,
Original code Patient 27
Description A point mutation in the intron 3 leading to an amino acid
Description change in the ECU domain
Date 15-Nov-2004 (Rel. 3, Created)
Date 15-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 8248
Feature /change: a -> t
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 403
Feature /change: +aatgtggcat cgcaaaccaa tacaataatg cgtgaagtga
Feature /change: cttcagcagc agattatgg
Feature /inexloc: -915
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116
Feature /change: G -> ECGIANQYNN AX
Feature /domain: ECU
Sex XY
//
ID Intron 3(19); standard; MUTATION; ECU
Accession C0205
Systematic name g.IVS3+2T>C, c.346+2T>C, r.346+2u>c,
Original code Patient 2
Description A point mutation in the intron 3 leading to an amino acid
Description change in the ECU domain
Date 26-Aug-2005 (Rel. 3, Created)
Date 26-Aug-2005 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15623492
RefAuthors Prasad, M. L., Velickovic, M., Weston, S. A., Benson, E.
RefAuthors M.
RefTitle Mutational screening of the CD40 ligand (CD40L) gene in
RefTitle patients with X linked hyper-igM syndrome (XHIM) and
RefTitle determination of carrier status in female relatives.
RefLoc J Clin Pathol 58:90-92 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 7239
Feature /change: t -> c
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 345..402
Feature /change: -gatataatgt taaacaaaga ggagacgaag aaagaaaaca
Feature /change: gctttgaaat gcaaaaag
Feature /note: skipping exon 3
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 97..116
Feature /change: DIMLNKEETK KENSFEMQKG -> VIRILKLRHM SX
Feature /domain: ECU
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Australian
//
ID Intron 3(20); standard; MUTATION; ECU
Accession C0222
Systematic name g.IVS3+1G>T, c.346+1G>T, r.346+1g>u
Original code P3
Description A point mutation in the intron 3 leading to an amino acid
Description change in the ECU domain
Date 17-Apr-2008 (Rel. 1, Created)
Date 17-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17553565
RefAuthors Erdos, M., Lakos, G., Derfalvi, B., Notarangelo, L. D.,
RefAuthors Durandy, A., Marodi, L.
RefTitle Molecular genetic analysis of hungarian patients with the
RefTitle hyper-immunoglobulin M syndrome.
RefLoc Mol Immunol:278-282 (2008)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 7238
Feature /change: g -> t
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /change: -gagacgaaga aagaaaacag ctttgaaatg caaaaaggtg
Feature /change: atcagaatcc tcaaattg
Feature /loc: IDRefSeq: C0015; GI:231718; CD40LC: 366..423
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 104..123
Feature /change: ETKKENSFEM QKGDQNPQIA -> RHMSX
Feature /domain: ECU
Sex XY
Ethnic origin Hungary
IgA 5 mg/dl
IgG 35 mg/dl
IgM 164 mg/dl
Lymphocytes Lymphocytes
Lymphocytes at diagnosis:
Lymphocytes total lymphocytes: 3400/mm3
Lymphocytes total CD4: 1700/mm3
Lymphocytes total CD8: 370/mm3
//
ID Intron 4(1); standard; MUTATION; TNFH
Accession C0049
Systematic name g.IVS4+3A>T
Description Point mutation in the intron 4 leading to an amino acid
Description change in the TNFH domain
Date 03-Jun-2002 (Rel. 3, Created)
Date 03-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (22-May-1996) to CD40Lbase.
RefLoc M., Kanariou, Athens, Greece
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9228
Feature /change: a -> t
Feature /genomic_region: intron; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +3
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: TNFH
Protein CD40L mutation
Date of birth 5/6/83
Diagnosis Date: 23/10/85
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms Evidence for interstitial pneumonia
Symptoms Evidence for interstitial pneumonia: cause unknown
Symptoms CNS Infections
Symptoms Meningitis: Cryptococcus
Symptoms Gastro-intestinal tract manifestations
Symptoms Proctitis
Symptoms Hematological abnormalities
Symptoms Neutropenia: cyclic
Symptoms Autoimmune manifestations
Symptoms Anti-nuclear antibodies: No
Symptoms Anti-neutrophil antibodies: Not searched
Symptoms Anti-platelet antibodies: Not searched
Symptoms Coombs positivity: No
Treatment IVIG: Constant
Treatment date started: 18/11/85
Treatment Still on IVIG, dose: 400mg/Kg/ 4 weeks
Treatment responding to infection: good
Treatment responding to neutropenia: good
Treatment responding to serum IgM levels: good
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Treatment G-CSF: intermittent
Treatment Effect on neutrophil count: good
Treatment dose: 150µg/Kg/ 1 day(s)
Treatment Steroids: never
Treatment Total parental nutrition: Never. No still on TPN
Treatment No bone marrow transplatation
Immunoglobulins date (closest to diagnosis): 23/10/85
IgA 0,24 mg/dL
IgE 1,88 kU/L
IgG 2,5 mg/dL
IgM 4,83 mg/dL
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Blood group: O+
Response Isoagglutinins: anti-A: 0; anti-B: 0
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 23/10/85
Lymphocytes total lymphocytes: 4816/mm3
Lymphocytes total CD4: 2070/mm3
Lymphocytes total CD8: 819/mm3
Lymphocytes total B: 1204/mm3
Lymphocytes most recent: 6/2/92
Lymphocytes total lymphocytes: 1800/mm3
Lymphocytes total CD4: 900/mm3
Lymphocytes total CD8: 324/mm3
Lymphocytes total B: 270/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 23/7/92: normal
Lymphocytes antigens: normal
//
ID Intron 4(2); standard; MUTATION; TNFH
Accession C0123
Systematic name g.IVS4-1G>
Original code KA
Description Deletion in the intron 4 leading to an amino acid change
Description in the TNFH domain
Date 29-Jul-2002 (Rel. 3, Created)
Date 29-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0015: 11845
Feature /change: -g
Feature /genomic_region: intron; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0015: 466..473
Feature /change: -tgttacag
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 137..139
Feature /change: VLQ -> VGX
Feature /domain: TNFH
Protein CD40L mutation
Sex XY
Ethnic origin Mongoloid; Japan
Status quo Deceased; cause of death: Traffic accident
Treatment IVIG: constant
//
ID Intron 4(3a); standard; MUTATION; TNFH
Accession C0124
Systematic name g.IVS4+1G>C
Original code JoC
Description Point mutation in the intron 4 leading to an amino acid
Description change in the TNFH domain
Date 29-Jul-2002 (Rel. 3, Created)
Date 29-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature dna; 2
Feature /rnalink: 6
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature dna; 3
Feature /rnalink: 7
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature dna; 4
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 5
Feature /dnalink: 1
Feature /aalink: 9
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0015: 403..465
Feature /change: -gtgatcagaa tcctcaaatt gcggcacatg tcataagtga
Feature /change: ggccagcagt aaaacaacat ctg
Feature rna; 6
Feature /dnalink: 2
Feature /aalink: 10
Feature /name: frameshift; insertion
Feature /loc: IDRefSeq: C0015: 403
Feature /change: +gtaggtttgc tatttgctaa ttt
Feature rna; 7
Feature /dnalink: 3
Feature /aalink: 11
Feature /name: frameshift; insertion
Feature /loc: IDRefSeq: C0015: 403
Feature /change: +gtaggtttgc tatttgctaa tttctatgaa tgcctaaaaa
Feature /change: ctaaaaggaa gctttaggct gatcatattg aac
Feature rna; 8
Feature /dnalink: 4
Feature /aalink: 12
Feature /name: frameshift; insertion
Feature /loc: IDRefSeq: C0015: 403
Feature /change: +gtaggtttgc tatttgctaa tttctatgaa tgcctaaaaa
Feature /change: ctaaaaggaa gctttaggct gatcatattg aacaacccag
Feature /change: tgttgttgca tcagggaact tttagccctg gaaataaaac
Feature /change: aggaacacaa ttgtcaaatt gacaccttct ct
Feature /inexloc: +1
Feature aa; 9
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116..137
Feature /change: GDQNPQIAAH VISEASSKTT SV -> V
Feature /domain: ECU
Feature aa; 10
Feature /rnalink: 6
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116
Feature /change: G -> GRFAICX
Feature /domain: ECU
Feature aa; 11
Feature /rnalink: 7
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116
Feature /change: G -> GRFAICX
Feature /domain: ECU
Feature aa; 12
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116
Feature /change: G -> GRFAICX
Feature /domain: ECU
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Caucasoid
Relative CD40Lbase; C0125
Relative CD40Lbase; C0126
Relative CD40Lbase; C0127
Relative CD40Lbase; C0128
Relative Other affected family members: Yes
Status quo Deceased; cause of death: PCP
Treatment IVIG: constant
//
ID Intron 4(3b); standard; MUTATION; TNFH
Accession C0125
Systematic name g.IVS4+1G>C
Original code SeC
Description Point mutation in the intron 4 leading to an amino acid
Description change in the TNFH domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 01-Aug-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature dna; 2
Feature /rnalink: 6
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature dna; 3
Feature /rnalink: 7
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature dna; 4
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 5
Feature /dnalink: 1
Feature /aalink: 9
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0015: 403..465
Feature /change: -gtgatcagaa tcctcaaatt gcggcacatg tcataagtga
Feature /change: ggccagcagt aaaacaacat ctg
Feature rna; 6
Feature /dnalink: 2
Feature /aalink: 10
Feature /name: frameshift; insertion
Feature /loc: IDRefSeq: C0015: 403
Feature /change: +gtaggtttgc tatttgctaa ttt
Feature rna; 7
Feature /dnalink: 3
Feature /aalink: 11
Feature /name: frameshift; insertion
Feature /loc: IDRefSeq: C0015: 403
Feature /change: +gtaggtttgc tatttgctaa tttctatgaa tgcctaaaaa
Feature /change: ctaaaaggaa gctttaggct gatcatattg aac
Feature rna; 8
Feature /dnalink: 4
Feature /aalink: 12
Feature /name: frameshift; insertion
Feature /loc: IDRefSeq: C0015: 403
Feature /change: +gtaggtttgc tatttgctaa tttctatgaa tgcctaaaaa
Feature /change: ctaaaaggaa gctttaggct gatcatattg aacaacccag
Feature /change: tgttgttgca tcagggaact tttagccctg gaaataaaac
Feature /change: aggaacacaa ttgtcaaatt gacaccttct ct
Feature /inexloc: +1
Feature aa; 9
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116..137
Feature /change: GDQNPQIAAH VISEASSKTT SV -> V
Feature /domain: ECU
Feature aa; 10
Feature /rnalink: 6
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116
Feature /change: G -> GRFAICX
Feature /domain: ECU
Feature aa; 11
Feature /rnalink: 7
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116
Feature /change: G -> GRFAICX
Feature /domain: ECU
Feature aa; 12
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116
Feature /change: G -> GRFAICX
Feature /domain: ECU
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Caucasoid
Relative CD40Lbase; C0124
Relative CD40Lbase; C0126
Relative CD40Lbase; C0127
Relative CD40Lbase; C0128
Relative Other affected family members: Yes
Treatment IVIG: constant
//
ID Intron 4(3c); standard; MUTATION; TNFH
Accession C0126
Systematic name g.IVS4+1G>C
Original code MC
Description Point mutation in the intron 4 leading to an amino acid
Description change in the TNFH domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 01-Aug-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature dna; 2
Feature /rnalink: 6
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature dna; 3
Feature /rnalink: 7
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature dna; 4
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 5
Feature /dnalink: 1
Feature /aalink: 9
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0015: 403..465
Feature /change: -gtgatcagaa tcctcaaatt gcggcacatg tcataagtga
Feature /change: ggccagcagt aaaacaacat ctg
Feature rna; 6
Feature /dnalink: 2
Feature /aalink: 10
Feature /name: frameshift; insertion
Feature /loc: IDRefSeq: C0015: 403
Feature /change: +gtaggtttgc tatttgctaa ttt
Feature rna; 7
Feature /dnalink: 3
Feature /aalink: 11
Feature /name: frameshift; insertion
Feature /loc: IDRefSeq: C0015: 403
Feature /change: +gtaggtttgc tatttgctaa tttctatgaa tgcctaaaaa
Feature /change: ctaaaaggaa gctttaggct gatcatattg aac
Feature rna; 8
Feature /dnalink: 4
Feature /aalink: 12
Feature /name: frameshift; insertion
Feature /loc: IDRefSeq: C0015: 403
Feature /change: +gtaggtttgc tatttgctaa tttctatgaa tgcctaaaaa
Feature /change: ctaaaaggaa gctttaggct gatcatattg aacaacccag
Feature /change: tgttgttgca tcagggaact tttagccctg gaaataaaac
Feature /change: aggaacacaa ttgtcaaatt gacaccttct ct
Feature /inexloc: +1
Feature aa; 9
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116..137
Feature /change: GDQNPQIAAH VISEASSKTT SV -> V
Feature /domain: ECU
Feature aa; 10
Feature /rnalink: 6
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116
Feature /change: G -> GRFAICX
Feature /domain: ECU
Feature aa; 11
Feature /rnalink: 7
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116
Feature /change: G -> GRFAICX
Feature /domain: ECU
Feature aa; 12
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116
Feature /change: G -> GRFAICX
Feature /domain: ECU
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Caucasoid
Relative CD40Lbase; C0124
Relative CD40Lbase; C0125
Relative CD40Lbase; C0127
Relative CD40Lbase; C0128
Relative Other affected family members: Yes
Status quo Deceased; cause of death: bile duct carcinoma
Symptoms Liver/biliary tract abnormalities
Symptoms Cirrhosis
Symptoms Other clinical features: cholangiolitis
Treatment IVIG: constant
//
ID Intron 4(3d); standard; MUTATION; TNFH
Accession C0127
Systematic name g.IVS4+1G>C
Original code RoC
Description Point mutation in the intron 4 leading to an amino acid
Description change in the TNFH domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 01-Aug-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature dna; 2
Feature /rnalink: 6
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature dna; 3
Feature /rnalink: 7
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature dna; 4
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 5
Feature /dnalink: 1
Feature /aalink: 9
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0015: 403..465
Feature /change: -gtgatcagaa tcctcaaatt gcggcacatg tcataagtga
Feature /change: ggccagcagt aaaacaacat ctg
Feature rna; 6
Feature /dnalink: 2
Feature /aalink: 10
Feature /name: frameshift; insertion
Feature /loc: IDRefSeq: C0015: 403
Feature /change: +gtaggtttgc tatttgctaa ttt
Feature rna; 7
Feature /dnalink: 3
Feature /aalink: 11
Feature /name: frameshift; insertion
Feature /loc: IDRefSeq: C0015: 403
Feature /change: +gtaggtttgc tatttgctaa tttctatgaa tgcctaaaaa
Feature /change: ctaaaaggaa gctttaggct gatcatattg aac
Feature rna; 8
Feature /dnalink: 4
Feature /aalink: 12
Feature /name: frameshift; insertion
Feature /loc: IDRefSeq: C0015: 403
Feature /change: +gtaggtttgc tatttgctaa tttctatgaa tgcctaaaaa
Feature /change: ctaaaaggaa gctttaggct gatcatattg aacaacccag
Feature /change: tgttgttgca tcagggaact tttagccctg gaaataaaac
Feature /change: aggaacacaa ttgtcaaatt gacaccttct ct
Feature /inexloc: +1
Feature aa; 9
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116..137
Feature /change: GDQNPQIAAH VISEASSKTT SV -> V
Feature /domain: ECU
Feature aa; 10
Feature /rnalink: 6
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116
Feature /change: G -> GRFAICX
Feature /domain: ECU
Feature aa; 11
Feature /rnalink: 7
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116
Feature /change: G -> GRFAICX
Feature /domain: ECU
Feature aa; 12
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116
Feature /change: G -> GRFAICX
Feature /domain: ECU
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Caucasoid
Relative CD40Lbase; C0124
Relative CD40Lbase; C0125
Relative CD40Lbase; C0126
Relative CD40Lbase; C0128
Relative Other affected family members: Yes
Treatment IVIG: constant
//
ID Intron 4(3e); standard; MUTATION; TNFH
Accession C0128
Systematic name g.IVS4+1G>C
Original code RiC
Description Point mutation in the intron 4 leading to an amino acid
Description change in the TNFH domain
Date 01-Aug-2002 (Rel. 3, Created)
Date 01-Aug-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature dna; 2
Feature /rnalink: 6
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature dna; 3
Feature /rnalink: 7
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature dna; 4
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 5
Feature /dnalink: 1
Feature /aalink: 9
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0015: 403..465
Feature /change: -gtgatcagaa tcctcaaatt gcggcacatg tcataagtga
Feature /change: ggccagcagt aaaacaacat ctg
Feature rna; 6
Feature /dnalink: 2
Feature /aalink: 10
Feature /name: frameshift; insertion
Feature /loc: IDRefSeq: C0015: 403
Feature /change: +gtaggtttgc tatttgctaa ttt
Feature rna; 7
Feature /dnalink: 3
Feature /aalink: 11
Feature /name: frameshift; insertion
Feature /loc: IDRefSeq: C0015: 403
Feature /change: +gtaggtttgc tatttgctaa tttctatgaa tgcctaaaaa
Feature /change: ctaaaaggaa gctttaggct gatcatattg aac
Feature rna; 8
Feature /dnalink: 4
Feature /aalink: 12
Feature /name: frameshift; insertion
Feature /loc: IDRefSeq: C0015: 403
Feature /change: +gtaggtttgc tatttgctaa tttctatgaa tgcctaaaaa
Feature /change: ctaaaaggaa gctttaggct gatcatattg aacaacccag
Feature /change: tgttgttgca tcagggaact tttagccctg gaaataaaac
Feature /change: aggaacacaa ttgtcaaatt gacaccttct ct
Feature /inexloc: +1
Feature aa; 9
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116..137
Feature /change: GDQNPQIAAH VISEASSKTT SV -> V
Feature /domain: ECU
Feature aa; 10
Feature /rnalink: 6
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116
Feature /change: G -> GRFAICX
Feature /domain: ECU
Feature aa; 11
Feature /rnalink: 7
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116
Feature /change: G -> GRFAICX
Feature /domain: ECU
Feature aa; 12
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116
Feature /change: G -> GRFAICX
Feature /domain: ECU
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Caucasoid
Relative CD40Lbase; C0124
Relative CD40Lbase; C0125
Relative CD40Lbase; C0126
Relative CD40Lbase; C0127
Relative Other affected family members: Yes
Treatment IVIG: constant
//
ID Intron 4(4); standard; MUTATION; TNFH
Accession C0125
Systematic name g.IVS4+1G>A
Original code RA
Description Point mutation in the intron 4 leading to an amino acid
Description change in the TNFH domain
Date 31-Jul-2002 (Rel. 3, Created)
Date 31-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper IgM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature dna; 2
Feature /rnalink: 6
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature dna; 3
Feature /rnalink: 7
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature dna; 4
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 5
Feature /dnalink: 1
Feature /aalink: 9
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0015: 403..465
Feature /change: -gtgatcagaa tcctcaaatt gcggcacatg tcataagtga
Feature /change: ggccagcagt aaaacaacat ctg
Feature rna; 6
Feature /dnalink: 2
Feature /aalink: 10
Feature /name: frameshift; insertion
Feature /loc: IDRefSeq: C0015: 403
Feature /change: +gtaggtttgc tatttgctaa ttt
Feature rna; 7
Feature /dnalink: 3
Feature /aalink: 11
Feature /name: frameshift; insertion
Feature /loc: IDRefSeq: C0015: 403
Feature /change: +gtaggtttgc tatttgctaa tttctatgaa tgcctaaaaa
Feature /change: ctaaaaggaa gctttaggct gatcatattg aac
Feature rna; 8
Feature /dnalink: 4
Feature /aalink: 12
Feature /name: frameshift; insertion
Feature /loc: IDRefSeq: C0015: 403
Feature /change: +gtaggtttgc tatttgctaa tttctatgaa tgcctaaaaa
Feature /change: ctaaaaggaa gctttaggct gatcatattg aacaacccag
Feature /change: tgttgttgca tcagggaact tttagccctg gaaataaaac
Feature /change: aggaacacaa ttgtcaaatt gacaccttct ct
Feature /inexloc: +1
Feature aa; 9
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116..137
Feature /change: GDQNPQIAAH VISEASSKTT SV -> V
Feature /domain: ECU
Feature aa; 10
Feature /rnalink: 6
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116
Feature /change: G -> GRFAICX
Feature /domain: ECU
Feature aa; 11
Feature /rnalink: 7
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116
Feature /change: G -> GRFAICX
Feature /domain: ECU
Feature aa; 12
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116
Feature /change: G -> GRFAICX
Feature /domain: ECU
Protein CD40L mutation
Sex XY
Ethnic origin Mongoloid; Japan
Treatment IVIG: constant
Treatment G-CSF: constant
//
ID Intron 4(5); standard; MUTATION; TNFH
Accession C0171
Systematic name g.IVS4+1G>C, c.409+1G>C, r.409+1g>c,
Original code Patient 37
Description A point mutation in the intron 4 leading to an amino acid
Description change in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0015: 403..465
Feature /change: -gtgatcagaa tcctcaaatt gcggcacatg tcataagtga
Feature /change: ggccagcagt aaaacaacat ctg
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116..137
Feature /change: GDQNPQIAAH VISEASSKTT SV -> V
Feature /domain: TNFH
Sex XY
//
ID Intron 4(6); standard; MUTATION; TNFH
Accession C0172
Systematic name g.IVS4+2T>C, c.409+2T>C, r.409+2u>c,
Original code Patient 38
Description A point mutation in the intron 4 leading to an amino acid
Description change in the TNFH domain
Date 11-Nov-2004 (Rel. 3, Created)
Date 11-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9227
Feature /change: t -> c
Feature /genomic_region: intron; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0015: 403..465
Feature /change: -gtgatcagaa tcctcaaatt gcggcacatg tcataagtga
Feature /change: ggccagcagt aaaacaacat ctg
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P29965; CD40L_HUMAN: 116..137
Feature /change: GDQNPQIAAH VISEASSKTT SV -> V
Feature /domain: TNFH
Sex XY
//
ID Intron 4(7); standard; MUTATION; TNFH
Accession C0207
Systematic name g.IVS4+1G>A, c.409+1G>A, r.409+1g>a,
Original code Patient 4
Description A point mutation in the intron 4 leading to an amino acid
Description change in the TNFH domain
Date 26-Aug-2005 (Rel. 3, Created)
Date 26-Aug-2005 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15623492
RefAuthors Prasad, M. L., Velickovic, M., Weston, S. A., Benson, E.
RefAuthors M.
RefTitle Mutational screening of the CD40 ligand (CD40L) gene in
RefTitle patients with X linked hyper-igM syndrome (XHIM) and
RefTitle determination of carrier status in female relatives.
RefLoc J Clin Pathol 58:90-92 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0015: 9226
Feature /change: g -> a
Feature /genomic_region: intron; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: TNFH
Protein CD40L mutation
Protein Defects of CD40L expression and/or of CD40 binding
Sex XY
Ethnic origin Australian
//
ID Deletion(1a); standard; MUTATION;
Accession C0132
Original code JiB
Description Deletion more than 10 kb
Date 07-Apr-2003 (Rel. 3, Created)
Date 07-Apr-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper igM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: upstream of exon 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /note: no mRNA
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /note: no protein
Sex XY
Ethnic origin Mongoloid
Relative CD40Lbase; C0133; cousin
Treatment IVIG: constant
Treatment Still on IVIG
//
ID Deletion(1b); standard; MUTATION;
Accession C0133
Original code TP
Description Deletion more than 10 kb
Date 07-Apr-2003 (Rel. 3, Created)
Date 07-Apr-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9746782
RefAuthors Seyama, K., Nonoyama, S., Gangsaas, I., Hollenbaugh, D.,
RefAuthors Pabst, H. F., Aruffo, A., Ochs, H. D.
RefTitle Mutations of the CD40 ligand gene and its effect on CD40
RefTitle ligand expression in patients with X-linked hyper igM
RefTitle syndrome.
RefLoc Blood 92:2421-2434 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: upstream of exon 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /note: no mRNA
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /note: no protein
Sex XY
Ethnic origin Mongoloid
Relative CD40Lbase; C0132; cousin
Treatment IVIG: constant
Treatment Still on IVIG
//
ID Deletion(2); standard; MUTATION;
Accession C0198
Original code TP
Description Deletion 56 kb
Date 15-Nov-2004 (Rel. 3, Created)
Date 15-Nov-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15358621
RefAuthors Lee, W. I., Torgerson, T. R., Schumacher, M. J., Yel, L.,
RefAuthors Zhu, Q., Ochs, H. D.
RefTitle Molecular analysis of a large cohort of patients with the
RefTitle hyper igM syndrome (HIGM).
RefLoc Blood 105:1881-1890 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: non-detectable
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /note: no mRNA
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /note: no protein
Sex XY
//
//
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