Database IFNGR1base
Version 1.0
File ifngr1pub.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/IFNGR1base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF44.html
Gene IFNGR1
Disease IFN-gamma receptor-1 deficiency
OMIM 107470
GDB 120688
Sequence IDRefSeq:D0041; IDRefSeq:C0041; UniProt:P15260
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID M1K(1),M1K(1); standard; MUTATION;
Accession I0070
Systematic name Allele 1 and 2: g.32877T>A, c.2T>A, r.2u>a, p.Met1Lys
Original code P
Description Allele 1 and 2: A point mutation in the exon 1 leading to
Description an amino acid change
Date 28-Jul-2010 (Rel. 1, Created)
Date 28-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1988085
RefAuthors Kopp, R., Noelke, B., Sauter, G., Schildberg, F. W.,
RefAuthors Paumgartner, G., Pfeiffer, A.
RefTitle Altered protein kinase C activity in biopsies of human
RefTitle colonic adenomas and carcinomas.
RefLoc Cancer Res:205-210 (1991)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0041: 32877
Feature /change: t -> a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0041; GI:184650; IFNGR1C: 50
Feature /codon: atg -> aag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P15260; INGR1_HUMAN: 1
Feature /change: M -> K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0041: 32877
Feature /change: t -> a
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0041; GI:184650; IFNGR1C: 50
Feature /codon: atg -> aag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P15260; INGR1_HUMAN: 1
Feature /change: M -> K
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Symptoms Other clinical features: Severe inguinal lymphadenitis;
Symptoms Weight loss; Fatigue; Fever; Respiratory distress;
Diagnosis Complete IFN-gamma receptor-1 deficiency
Age 9
Sex XX
Ethnic origin Finland
Parents Consanguineous
//
ID #P8X14(1),#P8X14(1); standard; MUTATION;
Accession I0008
Systematic name Allele 1 and 2: g.32897delC, c.22delC, r.22delc,
Systematic name p.Val10fsX5
Original code Patient 2
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 1 leading to a premature stop codon
Date 14-Aug-2003 (Rel. 1, Created)
Date 14-Aug-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Holland, S.M, Dorman, S.E., Kwon, A., Pitha-Rowe, I.F.
RefAuthors Frucht, D.M., Gerstberger, S.M., Noel, G.J., Vesterhus,
RefAuthors P., Brown, M.R., Fleisher, T.A.
RefTitle Abnormal regulation of interferon-gamma, interleukin-12,
RefTitle and tumor necrosis factor-alpha in human interferon-gamma
RefTitle receptor 1 deficiency
RefLoc J Infect Dis 178:1095-104 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 32897
Feature /change: -c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 70
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 8
Feature /change: P -> PLSCRVX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 32897
Feature /change: -c
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 70
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 8
Feature /change: P -> PLSCRVX
Symptoms BCG vaccinated: No
Symptoms Infected by BCG: No
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC); MAC infection of blood, lungs,
Symptoms bone marrow and liver
Diagnosis Complete IFN-gamma receptor-1 deficiency
Sex XY
Ethnic origin Caucasoid; Norway
Parents Consanguineous
Comment Older brother had BCG vaccination and presumed disseminated
Comment BCG infection and died of disseminated MAC infection at age
Comment 6.
//
ID @T36X38(1a),@T36X38(1a); standard; MUTATION; EC,EC
Accession I0052
Systematic name Allele 1 and 2: g.45144dupT, c.105dupT, r.105dupu,
Systematic name p.Thr36fsX3
Original code 1a
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 2 leading to a premature stop codon in the EC domain
Date 27-Apr-2005 (Rel. 1, Created)
Date 27-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15589309
RefAuthors Dorman, S. E., Picard, C., Lammas, D., Heyne, K., van
RefAuthors Dissel, J. T., Baretto, R., Rosenzweig, S. D., Newport,
RefAuthors M., Levin, M., Roesler, J., Kumararatne, D., Casanova, J.
RefAuthors L., Holland, S. M.
RefTitle Clinical features of dominant and recessive interferon
RefTitle gamma receptor 1 deficiencies.
RefLoc Lancet 364:2113-2121 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0041: 45145
Feature /change: +t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 154
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 36
Feature /change: T -> YNX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0041: 45145
Feature /change: +t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 154
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 36
Feature /change: T -> YNX
Feature /domain: EC
Symptoms BCG vaccinated: No
Diagnosis Complete IFN-gamma receptor-1 deficiency
Age 5,5
Sex XY
Ethnic origin Caucasoid; Turkey
Treatment Bone marrow transplantation: Yes
Relative IFNGR1base; I0053
Comment Deceased
//
ID @T36X38(1b),@T36X38(1b); standard; MUTATION; EC,EC
Accession I0053
Systematic name Allele 1 and 2: g.45144dupT, c.105dupT, r.105dupu,
Systematic name p.Thr36fsX3
Original code 2a
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 2 leading to a premature stop codon in the EC domain
Date 27-Apr-2005 (Rel. 1, Created)
Date 27-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15589309
RefAuthors Dorman, S. E., Picard, C., Lammas, D., Heyne, K., van
RefAuthors Dissel, J. T., Baretto, R., Rosenzweig, S. D., Newport,
RefAuthors M., Levin, M., Roesler, J., Kumararatne, D., Casanova, J.
RefAuthors L., Holland, S. M.
RefTitle Clinical features of dominant and recessive interferon
RefTitle gamma receptor 1 deficiencies.
RefLoc Lancet 364:2113-2121 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0041: 45145
Feature /change: +t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 154
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 36
Feature /change: T -> YNX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0041: 45145
Feature /change: +t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 154
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 36
Feature /change: T -> YNX
Feature /domain: EC
Symptoms BCG vaccinated: No
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC);
Diagnosis Complete IFN-gamma receptor-1 deficiency
Age 9
Sex XX
Ethnic origin Caucasoid; Turkey
Treatment Bone marrow transplantation: Yes
Relative IFNGR1base; I0052
//
ID @T36X38(2a),Y66C(1a); standard; MUTATION; EC,EC
Accession I0056
Systematic name Allele 1: g.45145_45146insT, c.106_107insT, r.106_107insu,
Systematic name p.Thr36fsX3
Systematic name Allele 2: g.45236A>G, c.197A>G, r.197a>g, p.Tyr66Cys
Original code 21r
Description Allele 1: a frame shift insertion mutation in the exon 2
Description leading to a premature stop codon in the EC domain
Description Allele 2: an point mutation in the exon 2 leading to an
Description amino acid change in the EC domain
Date 27-Apr-2005 (Rel. 1, Created)
Date 27-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15589309
RefAuthors Dorman, S. E., Picard, C., Lammas, D., Heyne, K., van
RefAuthors Dissel, J. T., Baretto, R., Rosenzweig, S. D., Newport,
RefAuthors M., Levin, M., Roesler, J., Kumararatne, D., Casanova, J.
RefAuthors L., Holland, S. M.
RefTitle Clinical features of dominant and recessive interferon
RefTitle gamma receptor 1 deficiencies.
RefLoc Lancet 364:2113-2121 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0041: 45146
Feature /change: +t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 155
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 36
Feature /change: T -> INX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0041: 45236
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0041: 245
Feature /codon: tat -> tgt; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P15260; INGR1_HUMAN: 66
Feature /change: Y -> C
Feature /domain: EC
Symptoms BCG vaccinated: No
Symptoms Mycobacterial infections:
Symptoms M. spp
Diagnosis Complete IFN-gamma receptor-1 deficiency
Age 1,5
Sex XY
Ethnic origin Caucasoid; Greece
Relative IFNGR1base; I0057
Comment Deceased
//
ID @T36X38(2b),Y66C(1b); standard; MUTATION; EC,EC
Accession I0057
Systematic name Allele 1: g.45145_45146insT, c.106_107insT, r.106_107insu,
Systematic name p.Thr36fsX3
Systematic name Allele 2: g.45236A>G, c.197A>G, r.197a>g, p.Tyr66Cys
Original code 22r
Description Allele 1: a frame shift insertion mutation in the exon 2
Description leading to a premature stop codon in the EC domain
Description Allele 2: an point mutation in the exon 2 leading to an
Description amino acid change in the EC domain
Date 27-Apr-2005 (Rel. 1, Created)
Date 27-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15589309
RefAuthors Dorman, S. E., Picard, C., Lammas, D., Heyne, K., van
RefAuthors Dissel, J. T., Baretto, R., Rosenzweig, S. D., Newport,
RefAuthors M., Levin, M., Roesler, J., Kumararatne, D., Casanova, J.
RefAuthors L., Holland, S. M.
RefTitle Clinical features of dominant and recessive interferon
RefTitle gamma receptor 1 deficiencies.
RefLoc Lancet 364:2113-2121 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0041: 45146
Feature /change: +t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 155
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 36
Feature /change: T -> INX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0041: 45236
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0041: 245
Feature /codon: tat -> tgt; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P15260; INGR1_HUMAN: 66
Feature /change: Y -> C
Feature /domain: EC
Symptoms BCG vaccinated: No
Symptoms Mycobacterial infections:
Symptoms M. fortuitum;
Diagnosis Complete IFN-gamma receptor-1 deficiency
Age 5,5
Sex XY
Ethnic origin Caucasoid; Greece
Relative IFNGR1base; I0056
Comment Deceased
//
ID #V56X61(1),#V56X61(1); standard; MUTATION; EC,EC
Accession I0054
Systematic name Allele 1 and 2: g.45207delC, c.168delC, r.168delc,
Systematic name p.Pro57fsX5
Original code 14m
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the EC domain
Date 27-Apr-2005 (Rel. 1, Created)
Date 27-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15589309
RefAuthors Dorman, S. E., Picard, C., Lammas, D., Heyne, K., van
RefAuthors Dissel, J. T., Baretto, R., Rosenzweig, S. D., Newport,
RefAuthors M., Levin, M., Roesler, J., Kumararatne, D., Casanova, J.
RefAuthors L., Holland, S. M.
RefTitle Clinical features of dominant and recessive interferon
RefTitle gamma receptor 1 deficiencies.
RefLoc Lancet 364:2113-2121 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 45207
Feature /change: -c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 216
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 56
Feature /change: V -> VLFLPX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 45207
Feature /change: -c
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 216
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 56
Feature /change: V -> VLFLPX
Feature /domain: EC
Symptoms BCG vaccinated: No
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC);
Diagnosis Complete IFN-gamma receptor-1 deficiency
Age 4
Sex XY
Ethnic origin USA
Treatment Bone marrow transplantation: Yes
//
ID C85Y(1),C85Y(1); standard; MUTATION; EC,EC
Accession I0068
Systematic name Allele 1 and 2: g.45947G>A, c.254G>A, r.254g>a, p.Cys85Tyr
Original code Patient 1
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 28-Sep-2007 (Rel. 1, Created)
Date 28-Sep-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17514500
RefAuthors Noordzij, J. G., Hartwig, N. G., Verreck, F. A., De Bruin-
RefAuthors Versteeg, S., De Boer, T., Dissel, J. T., De Groot, R.,
RefAuthors Ottenhoff, T. H., Van Dongen, J. J.
RefTitle Two patients with complete defects in interferon gamma
RefTitle receptor-dependent signaling.
RefLoc J Clin Immunol:490-496 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0041: 45947
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0041; GI:184650; IFNGR1C: 302
Feature /codon: tgt -> tat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P15260; INGR1_HUMAN: 85
Feature /change: C -> Y
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0041: 45947
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0041; GI:184650; IFNGR1C: 302
Feature /codon: tgt -> tat; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P15260; INGR1_HUMAN: 85
Feature /change: C -> Y
Feature /domain: EC
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC);
Diagnosis Complete IFN-gamma receptor-1 deficiency
Sex XX
Ethnic origin Mongoloid; Pakistan
Parents Consanguineous
Comment Patient had BCG vaccination at the age of 9 months and died
Comment at the age of 18 months
//
ID #Y175X176(1),#Y175X176(1); standard; MUTATION; EC,EC
Accession I0051
Systematic name Allele 1 and 2: g.47847delT, c.523delT, r.523delu,
Systematic name p.Tyr175fsX2
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 4 leading to a premature stop codon in the EC domain
Date 27-Apr-2005 (Rel. 1, Created)
Date 27-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12712974
RefAuthors Koscielniak, E., de Boer, T., Dupuis, S., Naumann, L.,
RefAuthors Casanova, J. L., Ottenhoff, T. H.
RefTitle Disseminated mycobacterium peregrinum infection in a child
RefTitle with complete interferon-gamma receptor-1 deficiency.
RefLoc Pediatr Infect Dis J 22:378-380 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 47847
Feature /change: -t
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 571
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 175
Feature /change: Y -> MX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 47847
Feature /change: -t
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 571
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 175
Feature /change: Y -> MX
Feature /domain: EC
Diagnosis Complete IFN-gamma receptor-1 deficiency
Symptoms BCG vaccinated: No
Symptoms Mycobacterial infections:
Symptoms Other; Mycobacterium peregrinum
Age 14 mo
Sex XY
Ethnic origin Caucasoid; Italy
Parents Non-consanguineous
Treatment Bone marrow transplantation: Yes
Treatment Donor: matched sibling
Treatment Outcome: alive and well
//
ID #Y175X176(2),#Y175X176(2); standard; MUTATION; EC,EC
Accession I0055
Systematic name Allele 1 and 2: g.47847delT, c.523delT, r.523delu,
Systematic name p.Tyr175fsX2
Original code 20q
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 4 leading to a premature stop codon in the EC domain
Date 27-Apr-2005 (Rel. 1, Created)
Date 27-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15589309
RefAuthors Dorman, S. E., Picard, C., Lammas, D., Heyne, K., van
RefAuthors Dissel, J. T., Baretto, R., Rosenzweig, S. D., Newport,
RefAuthors M., Levin, M., Roesler, J., Kumararatne, D., Casanova, J.
RefAuthors L., Holland, S. M.
RefTitle Clinical features of dominant and recessive interferon
RefTitle gamma receptor 1 deficiencies.
RefLoc Lancet 364:2113-2121 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 47847
Feature /change: -t
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 571
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 175
Feature /change: Y -> MX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 47847
Feature /change: -t
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 571
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 175
Feature /change: Y -> MX
Feature /domain: EC
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Diagnosis Complete IFN-gamma receptor-1 deficiency
Age 15
Sex XY
Ethnic origin Caucasoid; Greece
//
ID @T36X39(1),Intron 2(2); standard; MUTATION; EC,
Accession I0009
Systematic name Allele 1: g.45143_45146dup, c.104_107dup, r.104_107dup,
Systematic name p.Ile37fsX3
Systematic name Allele 2: g.IVS2+1G>T, c.200+1G>T, r.200+1g>u,
Description Allele 1: a frame shift duplication mutation in the exon 2
Description leading to a premature stop codon in the EC domain
Description Allele 2: a point mutation in the intron 2 leading to an
Description amino acid change
Date 15-Aug-2003 (Rel. 1, Created)
Date 15-Aug-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9497247
RefAuthors Altare, F., Jouanguy, E., Lamhamedi-Cherradi, S.,
RefAuthors Fondaneche, M. C., Fizame, C., Ribierre, F., Merlin, G.,
RefAuthors Dembic, Z., Schreiber, R., Lisowska-Grospierre, B.,
RefAuthors Fischer, A., Seboun, E., Casanova, J. L.
RefTitle A causative relationship between mutant IFNgR1 alleles and
RefTitle impaired cellular response to IFNgamma in a compound
RefTitle heterozygous child.
RefLoc Am J Hum Genet 62:723-726 (1998)
RefNumber [2]
RefCrossRef PUBMED; 9142806
RefAuthors Pierre-Audigier, C., Jouanguy, E., Lamhamedi, S., Altare,
RefAuthors F., Rauzier, J., Vincent, V., Canioni, D., Emile, J. F.,
RefAuthors Fischer, A., Blanche, S., Gaillard, J. L., Casanova, J. L.
RefTitle Fatal disseminated mycobacterium smegmatis infection in a
RefTitle child with inherited interferon gamma receptor deficiency.
RefLoc Clin Infect Dis 24:982-984 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0041: 45147
Feature /change: +ttac
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 156
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 36
Feature /change: T -> TYNX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0041: 45240
Feature /change: g -> t
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 134..248
Feature /change: -tgcctacacc aactaatgtt acaattgaat cctataacat
Feature /change: gaaccctatc gtatattggg agtaccagat catgccacag
Feature /change: gtccctgttt ttaccgtaga ggtaaagaac tatgg
Feature /inexloc: +1
Feature /note: skipping of exon 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 29..67
Feature /change: VPTPTNVTIE SYNMNPIVYW EYQIMPQVPV FTVEVKNYG ->
Feature /change: VLRIQNGLMP ASIFLIIIVI FLIMLVIHQI LFGSELKPGL
Feature /change: DKKNLPMQSQ KNLLYAEMEK LDHLNWISER RRSKSX
Feature /domain: EC
Symptoms BCG vaccinated: No
Symptoms Mycobacterial infections:
Symptoms M. smegmatis; hepatosplenomegaly, peripheral
Symptoms lymphadenopathy, fever, wasting, chronic anemia,
Symptoms hyperleukocytosis, renal failure with anuria (required
Symptoms dialysis); renal biopsy specimens revealed vasculitis
Symptoms due to chronic mycobacterial disease.
Diagnosis Complete IFN-gamma receptor-1 deficiency
Age 3
Sex XX
Ethnic origin Caucasoid; Italy
Parents Non-consanguineous
Comment Three of her seven siblings (two sisters and 1 brother) had
Comment died at 3, 6 and 11 years of age of a similar ilness.
//
ID #P44X61(1),#P44X61(1); standard; MUTATION; EC,EC
Accession I0004
Systematic name Allele 1 and 2: g.45170delC, c.131delC, r.131delc,
Systematic name p.Pro44fsX18
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the EC domain
Date 13-Aug-2003 (Rel. 1, Created)
Date 13-Aug-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8960475
RefAuthors Jouanguy, E., Altare, F., Lamhamedi, S., Revy, P., Emile,
RefAuthors J. F., Newport, M., Levin, M., Blanche, S., Seboun, E.,
RefAuthors Fischer, A., Casanova, J. L.
RefTitle Interferon-gamma-receptor deficiency in an infant with
RefTitle fatal bacille calmette-guérin infection.
RefLoc N Engl J Med 335:1956-1961 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 45170
Feature /change: -c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 179
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 44
Feature /change: P -> LSYIGSTRSC HRSLFLPX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 45170
Feature /change: -c
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 179
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 44
Feature /change: P -> LSYIGSTRSC HRSLFLPX
Feature /domain: EC
Symptoms BCG vaccinated: Yes
Symptoms Mycobacterial infections:
Symptoms Mycobacterium bovis;
Symptoms Other clinical features: fever, regional adenitis,
Symptoms cachexia, granulomatous dermatitis, hepatosplenomegaly,
Symptoms lymph-node enlargement, diffuse pneumonitis, multiple
Symptoms osteolytic lesions
Diagnosis Complete IFN-gamma receptor-1 deficiency
Age 2,5 months
Sex XX
Ethnic origin Negroid; Tunisia
Parents Consanguineous
Comment Despite antimycobacterial treatment and adjuvant treatment
Comment with interferon gamma, the patient died at the age of 10
Comment months from BCG infection with multiorgan failure,
Comment including bone marrow and liver failure.
//
ID V61E(1),#E218-1(1); standard; MUTATION; EC,EC
Accession I0013
Systematic name Allele 1: g.45221T>A, c.182T>A, r.182u>a, p.Val61Glu
Systematic name Allele 2: g.48623_48625delAAG, c.653_655delAAG,
Systematic name r.653_655delaag, p.Glu218del
Original code Patient III.1
Description Allele 1: a point mutation in the exon 2 leading to an
Description amino acid change in the EC domain
Description Allele 2: an inframe deletion in the exon 5 leading to an
Description amino acid change in the EC domain
Date 18-Aug-2003 (Rel. 1, Created)
Date 18-Aug-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10811850
RefAuthors Jouanguy, E., Dupuis, S., Pallier, A., Doffinger, R.,
RefAuthors Fondaneche, M. C., Fieschi, C., Lamhamedi-Cherradi, S.,
RefAuthors Altare, F., Emile, J. F., Lutz, P., Bordigoni, P.,
RefAuthors Cokugras, H., Akcakaya, N., Landman-Parker, J., Donnadieu,
RefAuthors J., Camcioglu, Y., Casanova, J. L.
RefTitle In a novel form of IFN-gamma receptor 1 deficiency, cell
RefTitle surface receptors fail to bind IFN-gamma.
RefLoc J Clin Invest 105:1429-1436 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0041: 45221
Feature /change: t -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0041: 230
Feature /codon: gta -> gaa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P15260; INGR1_HUMAN: 61
Feature /change: V -> E
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 48623..48625
Feature /change: -aag
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0041: 701..703
Feature /note: The deleted nucleotides may be as well
Feature /note: nucleotides 700..702 (gaa) or 701..703 (aag)
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P15260; INGR1_HUMAN: 218..219
Feature /change: EG -> G
Feature /domain: EC
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Diagnosis Complete IFN-gamma-R1 deficiency
Sex XX
Ethnic origin Caucasoid; France
Treatment Bone marrow transplantation: Yes
//
ID V63G(1),V63G(1); standard; MUTATION; EC,EC
Accession I0042
Systematic name Allele 1 and 2: g.45227T>G, c.188T>G, r.188u>g, p.Val63Gly
Original code 5-year-old Spanish girl
Description Allele 1 and 2: a point mutation in the exon 2 leading to
Description an amino acid change in the EC domain
Date 04-Sep-2003 (Rel. 1, Created)
Date 04-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11139207
RefAuthors Allende, L. M., Lopez-Goyanes, A., Paz-Artal, E., Corell,
RefAuthors A., Garcia-Perez, M. A., Varela, P., Scarpellini, A.,
RefAuthors Negreira, S., Palenque, E., Arnaiz-Villena, A.
RefTitle A point mutation in a domain of gamma interferon receptor
RefTitle 1 provokes severe immunodeficiency.
RefLoc Clin Diagn Lab Immunol 8:133-137 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0041: 45227
Feature /change: t -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0041: 236
Feature /codon: gta -> gga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P15260; INGR1_HUMAN: 63
Feature /change: V -> G
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0041: 45227
Feature /change: t -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0041: 236
Feature /codon: gta -> gga; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P15260; INGR1_HUMAN: 63
Feature /change: V -> G
Feature /domain: EC
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC); disseminated infection and
Symptoms multifocal osteomyelitis
Symptoms M. szulgai;
Diagnosis Complete IFN-gamma receptor-1 deficiency
Sex XX
Ethnic origin Caucasoid; Spain
Parents Consanguineous
Comment Patient's brother died due to meningitis by M. bovis at 10
Comment years of age
//
ID C77Y(1a),C77Y(1a); standard; MUTATION; EC,EC
Accession I0011
Systematic name Allele 1 and 2: g.45923G>A, c.230G>A, r.230g>a, p.Cys77Tyr
Original code Patient II.1
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 18-Aug-2003 (Rel. 1, Created)
Date 18-Aug-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10811850
RefAuthors Jouanguy, E., Dupuis, S., Pallier, A., Doffinger, R.,
RefAuthors Fondaneche, M. C., Fieschi, C., Lamhamedi-Cherradi, S.,
RefAuthors Altare, F., Emile, J. F., Lutz, P., Bordigoni, P.,
RefAuthors Cokugras, H., Akcakaya, N., Landman-Parker, J., Donnadieu,
RefAuthors J., Camcioglu, Y., Casanova, J. L.
RefTitle In a novel form of IFN-gamma receptor 1 deficiency, cell
RefTitle surface receptors fail to bind IFN-gamma.
RefLoc J Clin Invest 105:1429-1436 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0041: 45923
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0041: 278
Feature /codon: tgc -> tac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P15260; INGR1_HUMAN: 77
Feature /change: C -> Y
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0041: 45923
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0041: 278
Feature /codon: tgc -> tac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P15260; INGR1_HUMAN: 77
Feature /change: C -> Y
Feature /domain: EC
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Symptoms Mycobacterial infections:
Symptoms M. fortuitum;
Diagnosis Complete IFN-gamma receptor-1 deficiency
Sex XX
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Relative IFNGR1base; I0012 brother
//
ID C77Y(1b),C77Y(1b); standard; MUTATION; EC,EC
Accession I0012
Systematic name Allele 1 and 2: g.45923G>A, c.230G>A, r.230g>a, p.Cys77Tyr
Original code Patient II.2
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 18-Aug-2003 (Rel. 1, Created)
Date 18-Aug-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10811850
RefAuthors Jouanguy, E., Dupuis, S., Pallier, A., Doffinger, R.,
RefAuthors Fondaneche, M. C., Fieschi, C., Lamhamedi-Cherradi, S.,
RefAuthors Altare, F., Emile, J. F., Lutz, P., Bordigoni, P.,
RefAuthors Cokugras, H., Akcakaya, N., Landman-Parker, J., Donnadieu,
RefAuthors J., Camcioglu, Y., Casanova, J. L.
RefTitle In a novel form of IFN-gamma receptor 1 deficiency, cell
RefTitle surface receptors fail to bind IFN-gamma.
RefLoc J Clin Invest 105:1429-1436 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0041: 45923
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0041: 278
Feature /codon: tgc -> tac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P15260; INGR1_HUMAN: 77
Feature /change: C -> Y
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0041: 45923
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0041: 278
Feature /codon: tgc -> tac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P15260; INGR1_HUMAN: 77
Feature /change: C -> Y
Feature /domain: EC
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Symptoms Mycobacterial infections:
Symptoms M. fortuitum;
Diagnosis Complete IFN-gamma receptor-1 deficiency
Sex XY
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Relative IFNGR1base; I0011 sister
//
ID I87T(1a),I87T(1a); standard; MUTATION; EC,EC
Accession I0005
Systematic name Allele 1 and 2: g.45953T>C, c.260T>C, r.260u>c, p.Ile87Thr
Original code Patient 10
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 14-Aug-2003 (Rel. 1, Created)
Date 14-Aug-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9389728
RefAuthors Jouanguy, E., Lamhamedi-Cherradi, S., Altare, F.,
RefAuthors Fondaneche, M. C., Tuerlinckx, D., Blanche, S., Emile, J.
RefAuthors F., Gaillard, J. L., Schreiber, R., Levin, M., Fischer,
RefAuthors A., Hivroz, C., Casanova, J. L.
RefTitle Partial interferon-gamma receptor 1 deficiency in a child
RefTitle with tuberculoid bacillus calmette-guérin infection and
RefTitle a sibling with clinical tuberculosis.
RefLoc J Clin Invest 100:2658-2664 (1997)
RefNumber [2]
RefCrossRef PUBMED; 8885960
RefAuthors Casanova, J. L., Blanche, S., Emile, J. F., Jouanguy, E.,
RefAuthors Lamhamedi, S., Altare, F., Stephan, J. L., Bernaudin, F.,
RefAuthors Bordigoni, P., Turck, D., Lachaux, A., Albertini, M.,
RefAuthors Bourrillon, A., Dommergues, J. P., Pocidalo, M. A., Le
RefAuthors Deist, F., Gaillard, J. L., Griscelli, C., Fischer, A.
RefTitle Idiopathic disseminated bacillus calmette-guérin
RefTitle infection: a french national retrospective study.
RefLoc Pediatrics 98:774-778 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0041: 45953
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0041: 308
Feature /codon: att -> act; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P15260; INGR1_HUMAN: 87
Feature /change: I -> T
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0041: 45953
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0041: 308
Feature /codon: att -> act; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P15260; INGR1_HUMAN: 87
Feature /change: I -> T
Feature /domain: EC
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Symptoms Mycobacterial infections:
Symptoms Mycobacterium bovis; dissemination of the idiopathic BCG
Symptoms infection: skin, lymph nodes, lungs, spleen, liver
Symptoms Other; Mycoplasma pneumoniae; pneumonitis
Symptoms Salmonella infections:
Symptoms S. enteriditis; responded to a prolonged course of
Symptoms amoxicillin
Diagnosis Partial IFN-gamma receptor-1 deficiency
Age 1,5 months
Sex XY
Ethnic origin Caucasoid; Portugal
Parents Consanguineous
Relative IFNGR1base; I0006 sister
//
ID I87T(1b),I87T(1b); standard; MUTATION; EC,EC
Accession I0006
Systematic name Allele 1 and 2: g.45953T>C, c.260T>C, r.260u>c, p.Ile87Thr
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 14-Aug-2003 (Rel. 1, Created)
Date 14-Aug-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9389728
RefAuthors Jouanguy, E., Lamhamedi-Cherradi, S., Altare, F.,
RefAuthors Fondaneche, M. C., Tuerlinckx, D., Blanche, S., Emile, J.
RefAuthors F., Gaillard, J. L., Schreiber, R., Levin, M., Fischer,
RefAuthors A., Hivroz, C., Casanova, J. L.
RefTitle Partial interferon-gamma receptor 1 deficiency in a child
RefTitle with tuberculoid bacillus calmette-guérin infection and
RefTitle a sibling with clinical tuberculosis.
RefLoc J Clin Invest 100:2658-2664 (1997)
RefNumber [2]
RefCrossRef PUBMED; 8885960
RefAuthors Casanova, J. L., Blanche, S., Emile, J. F., Jouanguy, E.,
RefAuthors Lamhamedi, S., Altare, F., Stephan, J. L., Bernaudin, F.,
RefAuthors Bordigoni, P., Turck, D., Lachaux, A., Albertini, M.,
RefAuthors Bourrillon, A., Dommergues, J. P., Pocidalo, M. A., Le
RefAuthors Deist, F., Gaillard, J. L., Griscelli, C., Fischer, A.
RefTitle Idiopathic disseminated bacillus calmette-guérin
RefTitle infection: a french national retrospective study.
RefLoc Pediatrics 98:774-778 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0041: 45953
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0041: 308
Feature /codon: att -> act; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P15260; INGR1_HUMAN: 87
Feature /change: I -> T
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0041: 45953
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0041: 308
Feature /codon: att -> act; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P15260; INGR1_HUMAN: 87
Feature /change: I -> T
Feature /domain: EC
Symptoms BCG vaccinated: No
Symptoms Infected by BCG: No
Symptoms Mycobacterial infections:
Symptoms Other; Mycoplasma pneumoniae; pneumonitis
Symptoms Other clinical features: persistent cough with fatigue and
Symptoms anorexia, erythema nodosa and a lung infiltrate,
Symptoms symptomatic primary tuberculosis
Diagnosis Partial IFN-gamma receptor-1 deficiency
Age 3
Sex XX
Ethnic origin Caucasoid; Portugal
Parents Consanguineous
Relative IFNGR1base; I0005 brother
//
ID #W99-4(1),#W99-4(1); standard; MUTATION; EC,EC
Accession I0010
Systematic name Allele 1 and 2: g.45988_45999delTGGGTCAGAGTT,
Systematic name c.295_306delTGGGTCAGAGTT, r.295_306delugggucagaguu,
Systematic name p.Trp99_Lys103del
Original code Patient I.1
Description Allele 1 and 2: an inframe deletion in the exon 3 leading
Description to an amino acid change in the EC domain
Date 18-Aug-2003 (Rel. 1, Created)
Date 18-Aug-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10811850
RefAuthors Jouanguy, E., Dupuis, S., Pallier, A., Doffinger, R.,
RefAuthors Fondaneche, M. C., Fieschi, C., Lamhamedi-Cherradi, S.,
RefAuthors Altare, F., Emile, J. F., Lutz, P., Bordigoni, P.,
RefAuthors Cokugras, H., Akcakaya, N., Landman-Parker, J., Donnadieu,
RefAuthors J., Camcioglu, Y., Casanova, J. L.
RefTitle In a novel form of IFN-gamma receptor 1 deficiency, cell
RefTitle surface receptors fail to bind IFN-gamma.
RefLoc J Clin Invest 105:1429-1436 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 45988..45999
Feature /change: -tgggtcagag tt
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0041: 343..354
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P15260; INGR1_HUMAN: 99..102
Feature /change: -WVRV
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 45988..45999
Feature /change: -tgggtcagag tt
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0041: 343..354
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P15260; INGR1_HUMAN: 99..102
Feature /change: -WVRV
Feature /domain: EC
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC);
Diagnosis Complete IFN-gamma receptor-1 deficiency
Sex XX
Ethnic origin Negroid; Algeria
Parents Consanguineous
Treatment Bone marrow transplantation: Yes
Treatment Outcome
Treatment BMT-related problems: died 2 months later from a
Treatment disseminated granulomatous reaction after full
Treatment engraftment
//
ID S116X(1a),S116X(1a); standard; MUTATION; EC,EC
Accession I0001
Systematic name Allele 1 and 2: g.46040C>A, c.347C>A, r.347c>a, p.Ser116X
Original code III-4
Description Allele 1 and 2: a point mutation in the exon 3 leading to a
Description premature stop codon in the EC domain
Date 12-Aug-2003 (Rel. 1, Created)
Date 12-Aug-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8960473
RefAuthors Newport, M. J., Huxley, C. M., Huston, S., Hawrylowicz, C.
RefAuthors M., Oostra, B. A., Williamson, R., Levin, M.
RefTitle A mutation in the interferon-gamma-receptor gene and
RefTitle susceptibility to mycobacterial infection.
RefLoc N Engl J Med 335:1941-1949 (1996)
RefNumber [2]
RefCrossRef PUBMED; 8592339
RefAuthors Newport, M., Levin, M., Blackwell, J., Shaw, M. A.,
RefAuthors Williamson, R., Huxley, C.
RefTitle Evidence for exclusion of a mutation in NRAMP as the cause
RefTitle of familial disseminated atypical mycobacterial infection
RefTitle in a maltese kindred.
RefLoc J Med Genet 32:904-906 (1995)
RefNumber [3]
RefCrossRef PUBMED; 7815885
RefAuthors Levin, M., Newport, M. J., D'Souza, S., Kalabalikis, P.,
RefAuthors Brown, I. N., Lenicker, H. M., Agius, P. V., Davies, E.
RefAuthors G., Thrasher, A., Klein, N.
RefTitle Familial disseminated atypical mycobacterial infection in
RefTitle childhood: a human mycobacterial susceptibility gene?
RefLoc Lancet 345:79-83 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0041: 46040
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0041: 395
Feature /codon: tca -> taa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 116
Feature /change: S -> X
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0041: 46040
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0041: 395
Feature /codon: tca -> taa; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 116
Feature /change: S -> X
Feature /domain: EC
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC);
Symptoms Other clinical features: fever, weight loss,
Symptoms lymphadenopathy, hepatosplenomegaly, anemia
Diagnosis Complete IFN-gamma receptor-1 deficiency
Age <2
Sex XY
Ethnic origin Malta
Parents Consanguineous
Relative IFNGR1base; I0002 fourth cousin
Comment Patient's brother had M. chelonei infection and progressive
Comment pneumonia resulted in his death at the age of 3 1/2
//
ID S116X(1b),S116X(1b); standard; MUTATION; EC,EC
Accession I0002
Systematic name Allele 1 and 2: g.46040C>A, c.347C>A, r.347c>a, p.Ser116X
Original code III-1
Description Allele 1 and 2: a point mutation in the exon 3 leading to a
Description premature stop codon in the EC domain
Date 12-Aug-2003 (Rel. 1, Created)
Date 12-Aug-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8960473
RefAuthors Newport, M. J., Huxley, C. M., Huston, S., Hawrylowicz, C.
RefAuthors M., Oostra, B. A., Williamson, R., Levin, M.
RefTitle A mutation in the interferon-gamma-receptor gene and
RefTitle susceptibility to mycobacterial infection.
RefLoc N Engl J Med 335:1941-1949 (1996)
RefNumber [2]
RefCrossRef PUBMED; 8592339
RefAuthors Newport, M., Levin, M., Blackwell, J., Shaw, M. A.,
RefAuthors Williamson, R., Huxley, C.
RefTitle Evidence for exclusion of a mutation in NRAMP as the cause
RefTitle of familial disseminated atypical mycobacterial infection
RefTitle in a maltese kindred.
RefLoc J Med Genet 32:904-906 (1995)
RefNumber [3]
RefCrossRef PUBMED; 7815885
RefAuthors Levin, M., Newport, M. J., D'Souza, S., Kalabalikis, P.,
RefAuthors Brown, I. N., Lenicker, H. M., Agius, P. V., Davies, E.
RefAuthors G., Thrasher, A., Klein, N.
RefTitle Familial disseminated atypical mycobacterial infection in
RefTitle childhood: a human mycobacterial susceptibility gene?
RefLoc Lancet 345:79-83 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0041: 46040
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0041: 395
Feature /codon: tca -> taa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 116
Feature /change: S -> X
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0041: 46040
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0041: 395
Feature /codon: tca -> taa; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 116
Feature /change: S -> X
Feature /domain: EC
Symptoms Mycobacterial infections:
Symptoms M. fortui;
Symptoms Other clinical features: fever, night sweats,
Symptoms lymphadenopathy, splenomegaly, reactive hyperplasia. He
Symptoms developed erosion of the head of the left femur, collapse
Symptoms of his seventh thorasic vertebra, and clerosis of several
Symptoms other vertebrate
Diagnosis Complete IFN-gamma receptor-1 deficiency
Age 3
Sex XY
Ethnic origin Malta
Parents Consanguineous
Relative IFNGR1base; I0001 fourth cousin
//
ID S116X(2),S116X(2); standard; MUTATION; EC,EC
Accession I0003
Systematic name Allele 1 and 2: g.46040C>A, c.347C>A, r.347c>a, p.Ser116X
Original code III-6
Description Allele 1 and 2: a point mutation in the exon 3 leading to a
Description premature stop codon in the EC domain
Date 12-Aug-2003 (Rel. 1, Created)
Date 12-Aug-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8960473
RefAuthors Newport, M. J., Huxley, C. M., Huston, S., Hawrylowicz, C.
RefAuthors M., Oostra, B. A., Williamson, R., Levin, M.
RefTitle A mutation in the interferon-gamma-receptor gene and
RefTitle susceptibility to mycobacterial infection.
RefLoc N Engl J Med 335:1941-1949 (1996)
RefNumber [2]
RefCrossRef PUBMED; 8592339
RefAuthors Newport, M., Levin, M., Blackwell, J., Shaw, M. A.,
RefAuthors Williamson, R., Huxley, C.
RefTitle Evidence for exclusion of a mutation in NRAMP as the cause
RefTitle of familial disseminated atypical mycobacterial infection
RefTitle in a maltese kindred.
RefLoc J Med Genet 32:904-906 (1995)
RefNumber [3]
RefCrossRef PUBMED; 7815885
RefAuthors Levin, M., Newport, M. J., D'Souza, S., Kalabalikis, P.,
RefAuthors Brown, I. N., Lenicker, H. M., Agius, P. V., Davies, E.
RefAuthors G., Thrasher, A., Klein, N.
RefTitle Familial disseminated atypical mycobacterial infection in
RefTitle childhood: a human mycobacterial susceptibility gene?
RefLoc Lancet 345:79-83 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0041: 46040
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0041: 395
Feature /codon: tca -> taa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 116
Feature /change: S -> X
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0041: 46040
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0041: 395
Feature /codon: tca -> taa; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 116
Feature /change: S -> X
Feature /domain: EC
Symptoms Salmonella infections:
Symptoms Other; S. septicaemia
Symptoms Other clinical features: fever, anorexia, diarrhoea, weight
Symptoms loss, enlarged mesenteric and para-aortic lymphnodes;
Symptoms histiocytic proliferation and marked neutrophil
Symptoms infiltration, massive mesenteric and retroperitoneal
Symptoms lymphadenopathy, pneumococcal meningitis
Diagnosis Complete IFN-gamma receptor-1 deficiency
Age 2 years and 9 months
Sex XX
Ethnic origin Malta
Parents Non-consanguineous
Comment Despite treatment patient died of progressive central
Comment nervous system infection
//
ID Intron 3(1),#I187X201(1); standard; MUTATION; ,EC
Accession I0014
Systematic name Allele 1: g.IVS3+1G>T, c.373+1G>T, r.373+1g>u,
Systematic name Allele 2: g.48531_48534delACTC, c.561_564delACTC,
Systematic name r.561_564delacuc, p.Leu188fsX14
Original code 7-year-old girl
Description Allele 1: a point mutation in the intron 3 leading to an
Description amino acid change
Description Allele 2: a frame shift deletion in the exon 5 leading to a
Description premature stop codon in the EC domain
Date 19-Aug-2003 (Rel. 1, Created)
Date 19-Aug-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10480427
RefAuthors Roesler, J., Kofink, B., Wendisch, J., Heyden, S., Paul,
RefAuthors D., Friedrich, W., Casanova, J. L., Leupold, W., Gahr, M.,
RefAuthors Rosen-Wolff, A.
RefTitle Listeria monocytogenes and recurrent mycobacterial
RefTitle infections in a child with complete interferon-gamma-
RefTitle receptor (IFNgammaR1) deficiency: mutational analysis and
RefTitle evaluation of therapeutic options.
RefLoc Exp Hematol 27:1368-1374 (1999)
RefNumber [2]
RefCrossRef PUBMED; 10959079
RefAuthors Dorman, S. E., Holland, S. M.
RefTitle Interferon-gamma and interleukin-12 pathway defects and
RefTitle human disease.
RefLoc Cytokine Growth Factor Rev 11:321-333 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0041: 46067
Feature /change: g -> t
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 249..421
Feature /change: -tgttaagaat tcagaatgga ttgatgcctg catcaatatt
Feature /change: tctcatcatt attgtaatat ttctgatcat gttggtgatc
Feature /change: catcaaattc tctttgggtc agagttaaag ccagggttgg
Feature /change: acaaaaagaa tctgcctatg caaagtcaga agaatttgct
Feature /change: gtatgccgag atg
Feature /inexloc: +1
Feature /note: skipping of exon 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 67..125
Feature /change: GVKNSEWIDA CINISHHYCN ISDHVGDPSN SLWVRVKARV
Feature /change: GQKESAYAKS EEFAVCRDG
Feature /change: ->
Feature /change: GKNWTTX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 48531..48534
Feature /change: -actc
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 609..612
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 187..188
Feature /change: IL -> IRRRKMIVTR FSASX
Feature /domain: EC
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC); infection in the bone marrow
Symptoms Other; M. kansasii; in mediastinal lymph nodes in the
Symptoms left axilla
Symptoms Other clinical features: hepatomegaly, recurrent fever,
Symptoms meningitis, varicella, cirrhosis of the liver, Listeria
Symptoms monocytogenes infection
Diagnosis Complete IFN-gamma receptor-1 deficiency
Sex XX
Ethnic origin Caucasoid; German
Parents Non-consanguineous
Treatment Bone marrow transplantation: Yes
Treatment Donor: matched sibling
Treatment Outcome: alive and well
//
ID #I187X201(2),#I187X201(2); standard; MUTATION; EC,EC
Accession I0015
Systematic name Allele 1 and 2: g.48531_48534delACTC, c.561_564delACTC,
Systematic name r.561_564delacuc, p.Leu188fsX14
Original code Patient 13
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 5 leading to a premature stop codon in the EC domain
Date 19-Aug-2003 (Rel. 1, Created)
Date 19-Aug-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10959079
RefAuthors Dorman, S. E., Holland, S. M.
RefTitle Interferon-gamma and interleukin-12 pathway defects and
RefTitle human disease.
RefLoc Cytokine Growth Factor Rev 11:321-333 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 48531..48534
Feature /change: -actc
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 609..612
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 187..188
Feature /change: IL -> IRRRKMIVTR FSASX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 48531..48534
Feature /change: -actc
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 609..612
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 187..188
Feature /change: IL -> IRRRKMIVTR FSASX
Feature /domain: EC
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Diagnosis Complete IFN-gamma receptor-1 deficiency
Ethnic origin Caucasoid; Argentina
//
ID #I187X201(3),#I187X201(3); standard; MUTATION; EC,EC
Accession I0044
Systematic name Allele 1 and 2: g.48531_48534delACTC, c.561_564delACTC,
Systematic name r.561_564delacuc, p.Leu188fsX14
Original code 6-year-old girl
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 5 leading to a premature stop codon in the EC domain
Date 05-Sep-2003 (Rel. 1, Created)
Date 05-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11781064
RefAuthors Rosenzweig, S., Dorman, S. E., Roesler, J., Palacios, J.,
RefAuthors Zelazko, M., Holland, S. M.
RefTitle 561del4 defines a novel small deletion hotspot in the
RefTitle interferon-gamma receptor 1 chain.
RefLoc Clin Immunol 102:25-27 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 48531..48534
Feature /change: -actc
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 609..612
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 187..188
Feature /change: IL -> IRRRKMIVTR FSASX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 48531..48534
Feature /change: -actc
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 609..612
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 187..188
Feature /change: IL -> IRRRKMIVTR FSASX
Feature /domain: EC
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC); lymphadenopathy, diarrhea,
Symptoms hepatosplenomegaly, fever
Diagnosis Complete IFN-gamma receptor-1 deficiency
Age 6
Sex XX
Ethnic origin Caucasoid; Argentina
Parents Non-consanguineous
//
ID #F258X275(1),=; standard; MUTATION; TM
Accession I0067
Systematic name Allele 1: g.51234_51237delTCTA, c.774_777delTCTA,
Systematic name r.774_777delucua, p.Phe258fsX18
Description Allele 1: A frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the TM domain
Date 28-Sep-2007 (Rel. 1, Created)
Date 28-Sep-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17513528
RefAuthors Okada, S., Ishikawa, N., Shirao, K., Kawaguchi, H.,
RefAuthors Tsumura, M., Ohno, Y., Yasunaga, S., Ohtsubo, M.,
RefAuthors Takihara, Y., Kobayashi, M.
RefTitle The novel IFNGR1 mutation 774del4 produces a truncated
RefTitle form of interferon-gamma receptor 1 and has a dominant-
RefTitle negative effect on interferon-gamma signal transduction.
RefLoc J Med Genet:485-491 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51234..51237
Feature /change: -tcta
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041; GI:184650; IFNGR1C: 822..825
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 258..259
Feature /change: FL -> LCLAWYSSVF ILRKLIHX
Feature /domain: TM
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Symptoms BCG infections: tuperculoid granuloma, BCG lymphadenitis
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC); multifocal osteomyelitis
Diagnosis Complete IFN-gamma receptor-1 deficiency
Age 12
Sex XX
Ethnic origin Mongoloid; Japan
//
ID #K271X275(1),=; standard; MUTATION; CP
Accession I0045
Systematic name Allele 1: g.51271_51274delAAGA, c.811_814delAAGA,
Systematic name r.811_814delaaga, p.Lys272fsX4
Original code Patient 1 (AII-1)
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 05-Sep-2003 (Rel. 1, Created)
Date 05-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11865431
RefAuthors Sasaki, Y., Nomura, A., Kusuhara, K., Takada, H., Ahmed,
RefAuthors S., Obinata, K., Hamada, K., Okimoto, Y., Hara, T.
RefTitle Genetic basis of patients with bacille calmette-guérin
RefTitle osteomyelitis in japan: identification of dominant partial
RefTitle interferon-gamma receptor 1 deficiency as a predominant
RefTitle type.
RefLoc J Infect Dis 185:706-709 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51271..51274
Feature /change: -aaga
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 859..862
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 271..272
Feature /change: KK -> KLIHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Symptoms BCG infections: lymphadenitis, papules and abscesses over
Symptoms the limbs and trunk, recurrent osteomyelitis in her right
Symptoms remur
Symptoms Mycobacterial infections:
Symptoms Mycobacterium bovis;
Diagnosis Partial IFN-gamma receptor-1 deficiency
Sex XX
Ethnic origin Mongoloid; Japan
//
ID #I273X275(1a),=; standard; MUTATION; CP
Accession I0017
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code A.II.2
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 02-Sep-2003 (Rel. 1, Created)
Date 02-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10192386
RefAuthors Jouanguy, E., Lamhamedi-Cherradi, S., Lammas, D., Dorman,
RefAuthors S. E., Fondaneche, M. C., Dupuis, S., Doffinger, R.,
RefAuthors Altare, F., Girdlestone, J., Emile, J. F., Ducoulombier,
RefAuthors H., Edgar, D., Clarke, J., Oxelius, V. A., Brai, M.,
RefAuthors Novelli, V., Heyne, K., Fischer, A., Holland, S. M.,
RefAuthors Kumararatne, D. S., Schreiber, R. D., Casanova, J. L.
RefTitle A human IFNGR1 small deletion hotspot associated with
RefTitle dominant susceptibility to mycobacterial infection.
RefLoc Nat Genet 21:370-378 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC);
Symptoms Other; M. ssp
Diagnosis Partial IFN-gamma receptor-1 deficiency
Sex XX
Ethnic origin Caucasoid; Ireland
Relative IFNGR1base; I0018; daughter
//
ID #I273X275(1b),=; standard; MUTATION; CP
Accession I0018
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code A.III.1
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 02-Sep-2003 (Rel. 1, Created)
Date 02-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10192386
RefAuthors Jouanguy, E., Lamhamedi-Cherradi, S., Lammas, D., Dorman,
RefAuthors S. E., Fondaneche, M. C., Dupuis, S., Doffinger, R.,
RefAuthors Altare, F., Girdlestone, J., Emile, J. F., Ducoulombier,
RefAuthors H., Edgar, D., Clarke, J., Oxelius, V. A., Brai, M.,
RefAuthors Novelli, V., Heyne, K., Fischer, A., Holland, S. M.,
RefAuthors Kumararatne, D. S., Schreiber, R. D., Casanova, J. L.
RefTitle A human IFNGR1 small deletion hotspot associated with
RefTitle dominant susceptibility to mycobacterial infection.
RefLoc Nat Genet 21:370-378 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC);
Diagnosis Partial IFN-gamma receptor-1 deficiency
Sex XX
Ethnic origin Caucasoid; Ireland
Relative IFNGR1base; I0017; mother
//
ID #I273X275(2a),=; standard; MUTATION; CP
Accession I0019
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code B.II.2
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 02-Sep-2003 (Rel. 1, Created)
Date 02-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10192386
RefAuthors Jouanguy, E., Lamhamedi-Cherradi, S., Lammas, D., Dorman,
RefAuthors S. E., Fondaneche, M. C., Dupuis, S., Doffinger, R.,
RefAuthors Altare, F., Girdlestone, J., Emile, J. F., Ducoulombier,
RefAuthors H., Edgar, D., Clarke, J., Oxelius, V. A., Brai, M.,
RefAuthors Novelli, V., Heyne, K., Fischer, A., Holland, S. M.,
RefAuthors Kumararatne, D. S., Schreiber, R. D., Casanova, J. L.
RefTitle A human IFNGR1 small deletion hotspot associated with
RefTitle dominant susceptibility to mycobacterial infection.
RefLoc Nat Genet 21:370-378 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC); disseminated osteomyelitis
Symptoms Other clinical features: salmonellosis
Diagnosis Partial IFN-gamma receptor-1 deficiency
Sex XX
Ethnic origin Caucasoid; Ireland
Relative IFNGR1base; I0020; daughter
//
ID #I273X275(2b),=; standard; MUTATION; CP
Accession I0020
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code B.III.1
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 02-Sep-2003 (Rel. 1, Created)
Date 02-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10192386
RefAuthors Jouanguy, E., Lamhamedi-Cherradi, S., Lammas, D., Dorman,
RefAuthors S. E., Fondaneche, M. C., Dupuis, S., Doffinger, R.,
RefAuthors Altare, F., Girdlestone, J., Emile, J. F., Ducoulombier,
RefAuthors H., Edgar, D., Clarke, J., Oxelius, V. A., Brai, M.,
RefAuthors Novelli, V., Heyne, K., Fischer, A., Holland, S. M.,
RefAuthors Kumararatne, D. S., Schreiber, R. D., Casanova, J. L.
RefTitle A human IFNGR1 small deletion hotspot associated with
RefTitle dominant susceptibility to mycobacterial infection.
RefLoc Nat Genet 21:370-378 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Diagnosis Partial IFN-gamma receptor-1 deficiency
Sex XX
Ethnic origin Caucasoid; Ireland
Relative IFNGR1base; I0019; mother
//
ID #I273X275(3a),=; standard; MUTATION; CP
Accession I0021
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code C.III.2
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 03-Sep-2003 (Rel. 1, Created)
Date 03-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10192386
RefAuthors Jouanguy, E., Lamhamedi-Cherradi, S., Lammas, D., Dorman,
RefAuthors S. E., Fondaneche, M. C., Dupuis, S., Doffinger, R.,
RefAuthors Altare, F., Girdlestone, J., Emile, J. F., Ducoulombier,
RefAuthors H., Edgar, D., Clarke, J., Oxelius, V. A., Brai, M.,
RefAuthors Novelli, V., Heyne, K., Fischer, A., Holland, S. M.,
RefAuthors Kumararatne, D. S., Schreiber, R. D., Casanova, J. L.
RefTitle A human IFNGR1 small deletion hotspot associated with
RefTitle dominant susceptibility to mycobacterial infection.
RefLoc Nat Genet 21:370-378 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Symptoms BCG infections: disseminated osteomyelitis
Symptoms Mycobacterial infections:
Symptoms Other; M. ssp
Diagnosis Partial IFN-gamma receptor-1 deficiency
Sex XX
Ethnic origin Caucasoid; Germany
Relative IFNGR1base; I0022; brother
Relative IFNGR1base; I0023; nephew
Relative IFNGR1base; I0024; nephew
//
ID #I273X275(3b),=; standard; MUTATION; CP
Accession I0022
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code C.III.3
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 03-Sep-2003 (Rel. 1, Created)
Date 03-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10192386
RefAuthors Jouanguy, E., Lamhamedi-Cherradi, S., Lammas, D., Dorman,
RefAuthors S. E., Fondaneche, M. C., Dupuis, S., Doffinger, R.,
RefAuthors Altare, F., Girdlestone, J., Emile, J. F., Ducoulombier,
RefAuthors H., Edgar, D., Clarke, J., Oxelius, V. A., Brai, M.,
RefAuthors Novelli, V., Heyne, K., Fischer, A., Holland, S. M.,
RefAuthors Kumararatne, D. S., Schreiber, R. D., Casanova, J. L.
RefTitle A human IFNGR1 small deletion hotspot associated with
RefTitle dominant susceptibility to mycobacterial infection.
RefLoc Nat Genet 21:370-378 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Symptoms Other clinical features: salmonella multifocal
Symptoms osteomyelitis
Diagnosis Partial IFN-gamma receptor-1 deficiency
Sex XY
Ethnic origin Caucasoid; Germany
Relative IFNGR1base; I0021; sister
Relative IFNGR1base; I0023; son
Relative IFNGR1base; I0024; son
//
ID #I273X275(3c),=; standard; MUTATION; CP
Accession I0023
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code C.IV.2
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 03-Sep-2003 (Rel. 1, Created)
Date 03-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10192386
RefAuthors Jouanguy, E., Lamhamedi-Cherradi, S., Lammas, D., Dorman,
RefAuthors S. E., Fondaneche, M. C., Dupuis, S., Doffinger, R.,
RefAuthors Altare, F., Girdlestone, J., Emile, J. F., Ducoulombier,
RefAuthors H., Edgar, D., Clarke, J., Oxelius, V. A., Brai, M.,
RefAuthors Novelli, V., Heyne, K., Fischer, A., Holland, S. M.,
RefAuthors Kumararatne, D. S., Schreiber, R. D., Casanova, J. L.
RefTitle A human IFNGR1 small deletion hotspot associated with
RefTitle dominant susceptibility to mycobacterial infection.
RefLoc Nat Genet 21:370-378 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: No
Sex XX
Ethnic origin Caucasoid; Germany
Relative IFNGR1base; I0021; aunt
Relative IFNGR1base; I0022; father
Relative IFNGR1base; I0024; brother
//
ID #I273X275(3d),=; standard; MUTATION; CP
Accession I0024
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code C.IV.3
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 03-Sep-2003 (Rel. 1, Created)
Date 03-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10192386
RefAuthors Jouanguy, E., Lamhamedi-Cherradi, S., Lammas, D., Dorman,
RefAuthors S. E., Fondaneche, M. C., Dupuis, S., Doffinger, R.,
RefAuthors Altare, F., Girdlestone, J., Emile, J. F., Ducoulombier,
RefAuthors H., Edgar, D., Clarke, J., Oxelius, V. A., Brai, M.,
RefAuthors Novelli, V., Heyne, K., Fischer, A., Holland, S. M.,
RefAuthors Kumararatne, D. S., Schreiber, R. D., Casanova, J. L.
RefTitle A human IFNGR1 small deletion hotspot associated with
RefTitle dominant susceptibility to mycobacterial infection.
RefLoc Nat Genet 21:370-378 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: No
Sex XY
Ethnic origin Caucasoid; Germany
Relative IFNGR1base; I0022; aunt
Relative IFNGR1base; I0023; father
Relative IFNGR1base; I0024; brother
//
ID #I273X275(4),=; standard; MUTATION; CP
Accession I0026
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code E.II.7
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 03-Sep-2003 (Rel. 1, Created)
Date 03-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10192386
RefAuthors Jouanguy, E., Lamhamedi-Cherradi, S., Lammas, D., Dorman,
RefAuthors S. E., Fondaneche, M. C., Dupuis, S., Doffinger, R.,
RefAuthors Altare, F., Girdlestone, J., Emile, J. F., Ducoulombier,
RefAuthors H., Edgar, D., Clarke, J., Oxelius, V. A., Brai, M.,
RefAuthors Novelli, V., Heyne, K., Fischer, A., Holland, S. M.,
RefAuthors Kumararatne, D. S., Schreiber, R. D., Casanova, J. L.
RefTitle A human IFNGR1 small deletion hotspot associated with
RefTitle dominant susceptibility to mycobacterial infection.
RefLoc Nat Genet 21:370-378 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Symptoms BCG infections: multifocal lymphadenitis
Symptoms Other clinical features: multiple enlarged lymph nodes and
Symptoms spleen and liver abscesses
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC);
Symptoms Other; M. kansasii
Diagnosis Partial IFN-gamma receptor-1 deficiency
Sex XX
Ethnic origin Caucasoid; Morocco
//
ID #I273X275(5),=; standard; MUTATION; CP
Accession I0027
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code F.II.2
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 03-Sep-2003 (Rel. 1, Created)
Date 03-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10192386
RefAuthors Jouanguy, E., Lamhamedi-Cherradi, S., Lammas, D., Dorman,
RefAuthors S. E., Fondaneche, M. C., Dupuis, S., Doffinger, R.,
RefAuthors Altare, F., Girdlestone, J., Emile, J. F., Ducoulombier,
RefAuthors H., Edgar, D., Clarke, J., Oxelius, V. A., Brai, M.,
RefAuthors Novelli, V., Heyne, K., Fischer, A., Holland, S. M.,
RefAuthors Kumararatne, D. S., Schreiber, R. D., Casanova, J. L.
RefTitle A human IFNGR1 small deletion hotspot associated with
RefTitle dominant susceptibility to mycobacterial infection.
RefLoc Nat Genet 21:370-378 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: No
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC); disseminated osteomyelitis
Diagnosis Partial IFN-gamma receptor-1 deficiency
Sex XY
Ethnic origin Caucasoid; Sweden
//
ID #I273X275(6),=; standard; MUTATION; CP
Accession I0028
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code G.II.2
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 03-Sep-2003 (Rel. 1, Created)
Date 03-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10192386
RefAuthors Jouanguy, E., Lamhamedi-Cherradi, S., Lammas, D., Dorman,
RefAuthors S. E., Fondaneche, M. C., Dupuis, S., Doffinger, R.,
RefAuthors Altare, F., Girdlestone, J., Emile, J. F., Ducoulombier,
RefAuthors H., Edgar, D., Clarke, J., Oxelius, V. A., Brai, M.,
RefAuthors Novelli, V., Heyne, K., Fischer, A., Holland, S. M.,
RefAuthors Kumararatne, D. S., Schreiber, R. D., Casanova, J. L.
RefTitle A human IFNGR1 small deletion hotspot associated with
RefTitle dominant susceptibility to mycobacterial infection.
RefLoc Nat Genet 21:370-378 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: No
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC); pulmonary infection
Diagnosis Partial IFN-gamma receptor-1 deficiency
Sex XY
Ethnic origin Caucasoid; England
//
ID #I273X275(7),=; standard; MUTATION; CP
Accession I0029
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code H.II.2
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 03-Sep-2003 (Rel. 1, Created)
Date 03-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10192386
RefAuthors Jouanguy, E., Lamhamedi-Cherradi, S., Lammas, D., Dorman,
RefAuthors S. E., Fondaneche, M. C., Dupuis, S., Doffinger, R.,
RefAuthors Altare, F., Girdlestone, J., Emile, J. F., Ducoulombier,
RefAuthors H., Edgar, D., Clarke, J., Oxelius, V. A., Brai, M.,
RefAuthors Novelli, V., Heyne, K., Fischer, A., Holland, S. M.,
RefAuthors Kumararatne, D. S., Schreiber, R. D., Casanova, J. L.
RefTitle A human IFNGR1 small deletion hotspot associated with
RefTitle dominant susceptibility to mycobacterial infection.
RefLoc Nat Genet 21:370-378 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: No
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC); intracellulare multifocal
Symptoms osteomyelitis
Diagnosis Partial IFN-gamma receptor-1 deficiency
Sex XX
Ethnic origin Caucasoid; USA
//
ID #I273X275(8),=; standard; MUTATION; CP
Accession I0030
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code I.II.1
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 03-Sep-2003 (Rel. 1, Created)
Date 03-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10192386
RefAuthors Jouanguy, E., Lamhamedi-Cherradi, S., Lammas, D., Dorman,
RefAuthors S. E., Fondaneche, M. C., Dupuis, S., Doffinger, R.,
RefAuthors Altare, F., Girdlestone, J., Emile, J. F., Ducoulombier,
RefAuthors H., Edgar, D., Clarke, J., Oxelius, V. A., Brai, M.,
RefAuthors Novelli, V., Heyne, K., Fischer, A., Holland, S. M.,
RefAuthors Kumararatne, D. S., Schreiber, R. D., Casanova, J. L.
RefTitle A human IFNGR1 small deletion hotspot associated with
RefTitle dominant susceptibility to mycobacterial infection.
RefLoc Nat Genet 21:370-378 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC); multifocal osteomyelitis
Symptoms Other clinical features: recurrent disseminated Histoplasma
Symptoms capsulatum spanning ages 3 to 7 yr
Diagnosis Partial IFN-gamma receptor-1 deficiency
Sex XY
Ethnic origin Caucasoid; USA
//
ID #I273X275(9),=; standard; MUTATION; CP
Accession I0031
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code J.II.1
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 03-Sep-2003 (Rel. 1, Created)
Date 03-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10192386
RefAuthors Jouanguy, E., Lamhamedi-Cherradi, S., Lammas, D., Dorman,
RefAuthors S. E., Fondaneche, M. C., Dupuis, S., Doffinger, R.,
RefAuthors Altare, F., Girdlestone, J., Emile, J. F., Ducoulombier,
RefAuthors H., Edgar, D., Clarke, J., Oxelius, V. A., Brai, M.,
RefAuthors Novelli, V., Heyne, K., Fischer, A., Holland, S. M.,
RefAuthors Kumararatne, D. S., Schreiber, R. D., Casanova, J. L.
RefTitle A human IFNGR1 small deletion hotspot associated with
RefTitle dominant susceptibility to mycobacterial infection.
RefLoc Nat Genet 21:370-378 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: No
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC); disseminated osteomyelitis
Diagnosis Partial IFN-gamma receptor-1 deficiency
Sex XY
Ethnic origin Caucasoid; USA
//
ID #I273X275(10),=; standard; MUTATION; CP
Accession I0032
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code K.II.1
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 03-Sep-2003 (Rel. 1, Created)
Date 03-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10192386
RefAuthors Jouanguy, E., Lamhamedi-Cherradi, S., Lammas, D., Dorman,
RefAuthors S. E., Fondaneche, M. C., Dupuis, S., Doffinger, R.,
RefAuthors Altare, F., Girdlestone, J., Emile, J. F., Ducoulombier,
RefAuthors H., Edgar, D., Clarke, J., Oxelius, V. A., Brai, M.,
RefAuthors Novelli, V., Heyne, K., Fischer, A., Holland, S. M.,
RefAuthors Kumararatne, D. S., Schreiber, R. D., Casanova, J. L.
RefTitle A human IFNGR1 small deletion hotspot associated with
RefTitle dominant susceptibility to mycobacterial infection.
RefLoc Nat Genet 21:370-378 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: No
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC); multifocal osteomyelitis
Diagnosis Partial IFN-gamma receptor-1 deficiency
Sex XY
Ethnic origin Caucasoid; USA
//
ID #I273X275(11),=; standard; MUTATION; CP
Accession I0033
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code L.II.1
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 03-Sep-2003 (Rel. 1, Created)
Date 03-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10192386
RefAuthors Jouanguy, E., Lamhamedi-Cherradi, S., Lammas, D., Dorman,
RefAuthors S. E., Fondaneche, M. C., Dupuis, S., Doffinger, R.,
RefAuthors Altare, F., Girdlestone, J., Emile, J. F., Ducoulombier,
RefAuthors H., Edgar, D., Clarke, J., Oxelius, V. A., Brai, M.,
RefAuthors Novelli, V., Heyne, K., Fischer, A., Holland, S. M.,
RefAuthors Kumararatne, D. S., Schreiber, R. D., Casanova, J. L.
RefTitle A human IFNGR1 small deletion hotspot associated with
RefTitle dominant susceptibility to mycobacterial infection.
RefLoc Nat Genet 21:370-378 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Symptoms BCG infections: disseminated disease in the bones, skin,
Symptoms liver, spleen and lungs
Diagnosis Partial IFN-gamma receptor-1 deficiency
Sex XX
Ethnic origin Caucasoid; Scotland
//
ID #I273X275(12a),=; standard; MUTATION; CP
Accession I0034
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code Patient A
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 04-Sep-2003 (Rel. 1, Created)
Date 04-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11583830
RefAuthors Arend, S. M., Janssen, R., Gosen, J. J., Waanders, H., de
RefAuthors Boer, T., Ottenhoff, T. H., van Dissel, J. T.
RefTitle Multifocal osteomyelitis caused by nontuberculous
RefTitle mycobacteria in patients with a genetic defect of the
RefTitle interferon-gamma receptor.
RefLoc Neth J Med 59:140-151 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC); multifocal osteomyelitis
Symptoms Other; M. gordonae
Symptoms Other clinical features: cervical lymphadenopathy,
Symptoms varicella (twice), toxoplasmosis, several episodes of
Symptoms tenosynovitis and arthritis of the ankles and wrists
Diagnosis Partial IFN-gamma receptor-1 deficiency
Age 25
Sex XX
Parents Non-consanguineous
Relative IFNGR1base; I0035; son
//
ID #I273X275(12b),=; standard; MUTATION; CP
Accession I0035
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code son of patient A
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 04-Sep-2003 (Rel. 1, Created)
Date 04-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11583830
RefAuthors Arend, S. M., Janssen, R., Gosen, J. J., Waanders, H., de
RefAuthors Boer, T., Ottenhoff, T. H., van Dissel, J. T.
RefTitle Multifocal osteomyelitis caused by nontuberculous
RefTitle mycobacteria in patients with a genetic defect of the
RefTitle interferon-gamma receptor.
RefLoc Neth J Med 59:140-151 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC); generalized lymphadenopathy and
Symptoms cutaneous nodules in the neck region
Diagnosis Partial IFN-gamma receptor-1 deficiency
Age 6
Sex XY
Parents Non-consanguineous
Relative IFNGR1base; I0034; mother
//
ID #I273X275(13a),=; standard; MUTATION; CP
Accession I0036
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code Patient B
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 04-Sep-2003 (Rel. 1, Created)
Date 04-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11583830
RefAuthors Arend, S. M., Janssen, R., Gosen, J. J., Waanders, H., de
RefAuthors Boer, T., Ottenhoff, T. H., van Dissel, J. T.
RefTitle Multifocal osteomyelitis caused by nontuberculous
RefTitle mycobacteria in patients with a genetic defect of the
RefTitle interferon-gamma receptor.
RefLoc Neth J Med 59:140-151 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC); multifocal osteomyelitis
Symptoms Other clinical features: atopic dermatitis, recurrent
Symptoms bacterial sinusitis and otitis
Diagnosis Partial IFN-gamma receptor-1 deficiency
Age 6
Sex XY
Parents Non-consanguineous
Relative IFNGR1base; I0037; sister
Relative IFNGR1base; I0038; father
//
ID #I273X275(13b),=; standard; MUTATION; CP
Accession I0037
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code sister of patient B
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 04-Sep-2003 (Rel. 1, Created)
Date 04-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11583830
RefAuthors Arend, S. M., Janssen, R., Gosen, J. J., Waanders, H., de
RefAuthors Boer, T., Ottenhoff, T. H., van Dissel, J. T.
RefTitle Multifocal osteomyelitis caused by nontuberculous
RefTitle mycobacteria in patients with a genetic defect of the
RefTitle interferon-gamma receptor.
RefLoc Neth J Med 59:140-151 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC); fever, weight loss, abdominal
Symptoms pain, hepatosplenomegaly and inguinal and
Symptoms retroperitoneal lymphadenopathy
Diagnosis Partial IFN-gamma receptor-1 deficiency
Sex XX
Parents Non-consanguineous
Relative IFNGR1base; I0036; brother
Relative IFNGR1base; I0038; father
//
ID #I273X275(13c),=; standard; MUTATION; CP
Accession I0038
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code father of patient B
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 04-Sep-2003 (Rel. 1, Created)
Date 04-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11583830
RefAuthors Arend, S. M., Janssen, R., Gosen, J. J., Waanders, H., de
RefAuthors Boer, T., Ottenhoff, T. H., van Dissel, J. T.
RefTitle Multifocal osteomyelitis caused by nontuberculous
RefTitle mycobacteria in patients with a genetic defect of the
RefTitle interferon-gamma receptor.
RefLoc Neth J Med 59:140-151 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Symptoms BCG infections: systemic symptoms, generalized
Symptoms lymphadenopathy, fistulas inthe groin and neck region and
Symptoms osteomyelitis of the left leg
Diagnosis Partial IFN-gamma receptor-1 deficiency
Sex XY
Parents Non-consanguineous
Relative IFNGR1base; I0036; brother
Relative IFNGR1base; I0037; sister
//
ID #I273X275(14a),=; standard; MUTATION; CP
Accession I0039
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code Patient C
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 04-Sep-2003 (Rel. 1, Created)
Date 04-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11583830
RefAuthors Arend, S. M., Janssen, R., Gosen, J. J., Waanders, H., de
RefAuthors Boer, T., Ottenhoff, T. H., van Dissel, J. T.
RefTitle Multifocal osteomyelitis caused by nontuberculous
RefTitle mycobacteria in patients with a genetic defect of the
RefTitle interferon-gamma receptor.
RefLoc Neth J Med 59:140-151 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC); multifocal osteomyelitis
Diagnosis Partial IFN-gamma receptor-1 deficiency
Sex XX
Parents Non-consanguineous
Relative IFNGR1base; I0040; mother
Relative IFNGR1base; I0041; sister
//
ID #I273X275(14b),=; standard; MUTATION; CP
Accession I0040
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code mother of patient C
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 04-Sep-2003 (Rel. 1, Created)
Date 04-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11583830
RefAuthors Arend, S. M., Janssen, R., Gosen, J. J., Waanders, H., de
RefAuthors Boer, T., Ottenhoff, T. H., van Dissel, J. T.
RefTitle Multifocal osteomyelitis caused by nontuberculous
RefTitle mycobacteria in patients with a genetic defect of the
RefTitle interferon-gamma receptor.
RefLoc Neth J Med 59:140-151 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: No
Symptoms Mycobacterial infections:
Symptoms Other; M. asiaticum; disseminated lupus vulgaris,
Symptoms generalized lymphadenopathy
Diagnosis Partial IFN-gamma receptor-1 deficiency
Sex XX
Parents Non-consanguineous
Relative IFNGR1base; I0039; daughter
Relative IFNGR1base; I0041; daughter
//
ID #I273X275(14c),=; standard; MUTATION; CP
Accession I0041
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code sister of patient C
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 04-Sep-2003 (Rel. 1, Created)
Date 04-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11583830
RefAuthors Arend, S. M., Janssen, R., Gosen, J. J., Waanders, H., de
RefAuthors Boer, T., Ottenhoff, T. H., van Dissel, J. T.
RefTitle Multifocal osteomyelitis caused by nontuberculous
RefTitle mycobacteria in patients with a genetic defect of the
RefTitle interferon-gamma receptor.
RefLoc Neth J Med 59:140-151 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Sex XX
Parents Non-consanguineous
Relative IFNGR1base; I0039; sister
Relative IFNGR1base; I0040; mother
//
ID #I273X275(15a),=; standard; MUTATION; CP
Accession I0046
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code Patient 2 (BIII-3)
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 05-Sep-2003 (Rel. 1, Created)
Date 05-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11865431
RefAuthors Sasaki, Y., Nomura, A., Kusuhara, K., Takada, H., Ahmed,
RefAuthors S., Obinata, K., Hamada, K., Okimoto, Y., Hara, T.
RefTitle Genetic basis of patients with bacille calmette-guérin
RefTitle osteomyelitis in japan: identification of dominant partial
RefTitle interferon-gamma receptor 1 deficiency as a predominant
RefTitle type.
RefLoc J Infect Dis 185:706-709 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Symptoms BCG infections: intermittent fever, lymphadenitis, liver
Symptoms dysfunction, osteomyelitis at the left humerus and left
Symptoms calcaneus and left clavicle
Diagnosis Partial IFN-gamma receptor-1 deficiency
Sex XY
Ethnic origin Mongoloid; Japan
Relative IFNGR1base; I0047; father
//
ID #I273X275(15b),=; standard; MUTATION; CP
Accession I0047
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code Patient 2' (BII-1)
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 05-Sep-2003 (Rel. 1, Created)
Date 05-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11865431
RefAuthors Sasaki, Y., Nomura, A., Kusuhara, K., Takada, H., Ahmed,
RefAuthors S., Obinata, K., Hamada, K., Okimoto, Y., Hara, T.
RefTitle Genetic basis of patients with bacille calmette-guérin
RefTitle osteomyelitis in japan: identification of dominant partial
RefTitle interferon-gamma receptor 1 deficiency as a predominant
RefTitle type.
RefLoc J Infect Dis 185:706-709 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC); osteomyelitis in the ribs
Symptoms M. tuberculosis; lymphadenitis of the neck at 3 years
Symptoms and bilateral inguinal lymphadenitis at 23 years
Diagnosis Partial IFN-gamma receptor-1 deficiency
Sex XY
Ethnic origin Mongoloid; Japan
Relative IFNGR1base; I0046; son
//
ID #I273X275(16),=; standard; MUTATION; CP
Accession I0048
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code Patient 3 (CII-1)
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 05-Sep-2003 (Rel. 1, Created)
Date 05-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11865431
RefAuthors Sasaki, Y., Nomura, A., Kusuhara, K., Takada, H., Ahmed,
RefAuthors S., Obinata, K., Hamada, K., Okimoto, Y., Hara, T.
RefTitle Genetic basis of patients with bacille calmette-guérin
RefTitle osteomyelitis in japan: identification of dominant partial
RefTitle interferon-gamma receptor 1 deficiency as a predominant
RefTitle type.
RefLoc J Infect Dis 185:706-709 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Symptoms Mycobacterial infections:
Symptoms Mycobacterium bovis; claudication, limitation in
Symptoms rotation and antiflexion of the neck
Diagnosis Partial IFN-gamma receptor-1 deficiency
Sex XY
Ethnic origin Mongoloid; Japan
//
ID #I273X275(17a),=; standard; MUTATION; CP
Accession I0049
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code 42-month-old female
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 27-Apr-2005 (Rel. 1, Created)
Date 27-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12269642
RefAuthors Waibel, K. H., Regis, D. P., Uzel, G., Rosenzweig, S. D.,
RefAuthors Holland, S. M.
RefTitle Fever and leg pain in a 42-month-old.
RefLoc Ann Allergy Asthma Immunol 89:239-243 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC); osteomyelitis
Age 42 mo
Sex XX
Relative IFNGR1base; I0050; mother
//
ID #I273X275(17b),=; standard; MUTATION; CP
Accession I0050
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 27-Apr-2005 (Rel. 1, Created)
Date 27-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12269642
RefAuthors Waibel, K. H., Regis, D. P., Uzel, G., Rosenzweig, S. D.,
RefAuthors Holland, S. M.
RefTitle Fever and leg pain in a 42-month-old.
RefLoc Ann Allergy Asthma Immunol 89:239-243 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC); osteomyelitis
Age 24
Sex XX
Relative IFNGR1base; I0049; daughter
//
ID #I273X275(18a),=; standard; MUTATION; CP
Accession I0058
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code 42M
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 27-Apr-2005 (Rel. 1, Created)
Date 27-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15589309
RefAuthors Dorman, S. E., Picard, C., Lammas, D., Heyne, K., van
RefAuthors Dissel, J. T., Baretto, R., Rosenzweig, S. D., Newport,
RefAuthors M., Levin, M., Roesler, J., Kumararatne, D., Casanova, J.
RefAuthors L., Holland, S. M.
RefTitle Clinical features of dominant and recessive interferon
RefTitle gamma receptor 1 deficiencies.
RefLoc Lancet 364:2113-2121 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: No
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC);
Diagnosis Partial IFN-gamma receptor-1 deficiency
Age 15
Sex XY
Ethnic origin USA
Relative IFNGR1base; I0059;
//
ID #I273X275(18b),=; standard; MUTATION; CP
Accession I0059
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code 43M
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 27-Apr-2005 (Rel. 1, Created)
Date 27-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15589309
RefAuthors Dorman, S. E., Picard, C., Lammas, D., Heyne, K., van
RefAuthors Dissel, J. T., Baretto, R., Rosenzweig, S. D., Newport,
RefAuthors M., Levin, M., Roesler, J., Kumararatne, D., Casanova, J.
RefAuthors L., Holland, S. M.
RefTitle Clinical features of dominant and recessive interferon
RefTitle gamma receptor 1 deficiencies.
RefLoc Lancet 364:2113-2121 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: No
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC);
Diagnosis Partial IFN-gamma receptor-1 deficiency
Age 15
Sex XY
Ethnic origin USA
Relative IFNGR1base; I0058;
//
ID #I273X275(19),=; standard; MUTATION; CP
Accession I0060
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code 44N
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 27-Apr-2005 (Rel. 1, Created)
Date 27-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15589309
RefAuthors Dorman, S. E., Picard, C., Lammas, D., Heyne, K., van
RefAuthors Dissel, J. T., Baretto, R., Rosenzweig, S. D., Newport,
RefAuthors M., Levin, M., Roesler, J., Kumararatne, D., Casanova, J.
RefAuthors L., Holland, S. M.
RefTitle Clinical features of dominant and recessive interferon
RefTitle gamma receptor 1 deficiencies.
RefLoc Lancet 364:2113-2121 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: No
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC);
Symptoms Other; M. kansasii
Diagnosis Partial IFN-gamma receptor-1 deficiency
Age 21
Sex XY
Ethnic origin USA
//
ID #I273X275(20a),=; standard; MUTATION; CP
Accession I0061
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code 47P
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 27-Apr-2005 (Rel. 1, Created)
Date 27-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15589309
RefAuthors Dorman, S. E., Picard, C., Lammas, D., Heyne, K., van
RefAuthors Dissel, J. T., Baretto, R., Rosenzweig, S. D., Newport,
RefAuthors M., Levin, M., Roesler, J., Kumararatne, D., Casanova, J.
RefAuthors L., Holland, S. M.
RefTitle Clinical features of dominant and recessive interferon
RefTitle gamma receptor 1 deficiencies.
RefLoc Lancet 364:2113-2121 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: No
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC);
Diagnosis Partial IFN-gamma receptor-1 deficiency
Age 4
Sex XY
Ethnic origin USA
Relative IFNGR1base; I0062;
//
ID #I273X275(20b),=; standard; MUTATION; CP
Accession I0062
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code 48P
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 27-Apr-2005 (Rel. 1, Created)
Date 27-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15589309
RefAuthors Dorman, S. E., Picard, C., Lammas, D., Heyne, K., van
RefAuthors Dissel, J. T., Baretto, R., Rosenzweig, S. D., Newport,
RefAuthors M., Levin, M., Roesler, J., Kumararatne, D., Casanova, J.
RefAuthors L., Holland, S. M.
RefTitle Clinical features of dominant and recessive interferon
RefTitle gamma receptor 1 deficiencies.
RefLoc Lancet 364:2113-2121 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: No
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC);
Diagnosis Partial IFN-gamma receptor-1 deficiency
Age 28
Sex XX
Ethnic origin USA
Relative IFNGR1base; I0061;
//
ID #I273X275(21),=; standard; MUTATION; CP
Accession I0063
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code 49Q
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 27-Apr-2005 (Rel. 1, Created)
Date 27-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15589309
RefAuthors Dorman, S. E., Picard, C., Lammas, D., Heyne, K., van
RefAuthors Dissel, J. T., Baretto, R., Rosenzweig, S. D., Newport,
RefAuthors M., Levin, M., Roesler, J., Kumararatne, D., Casanova, J.
RefAuthors L., Holland, S. M.
RefTitle Clinical features of dominant and recessive interferon
RefTitle gamma receptor 1 deficiencies.
RefLoc Lancet 364:2113-2121 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC);
Diagnosis Partial IFN-gamma receptor-1 deficiency
Age 22
Sex XY
Ethnic origin Caucasoid; India
//
ID #I273X275(22),=; standard; MUTATION; CP
Accession I0064
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code 50R
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 27-Apr-2005 (Rel. 1, Created)
Date 27-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15589309
RefAuthors Dorman, S. E., Picard, C., Lammas, D., Heyne, K., van
RefAuthors Dissel, J. T., Baretto, R., Rosenzweig, S. D., Newport,
RefAuthors M., Levin, M., Roesler, J., Kumararatne, D., Casanova, J.
RefAuthors L., Holland, S. M.
RefTitle Clinical features of dominant and recessive interferon
RefTitle gamma receptor 1 deficiencies.
RefLoc Lancet 364:2113-2121 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Diagnosis Partial IFN-gamma receptor-1 deficiency
Age 6
Sex XX
Ethnic origin Caucasoid; France
//
ID #I273X275(23a),=; standard; MUTATION; CP
Accession I0065
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code 52T
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 27-Apr-2005 (Rel. 1, Created)
Date 27-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15589309
RefAuthors Dorman, S. E., Picard, C., Lammas, D., Heyne, K., van
RefAuthors Dissel, J. T., Baretto, R., Rosenzweig, S. D., Newport,
RefAuthors M., Levin, M., Roesler, J., Kumararatne, D., Casanova, J.
RefAuthors L., Holland, S. M.
RefTitle Clinical features of dominant and recessive interferon
RefTitle gamma receptor 1 deficiencies.
RefLoc Lancet 364:2113-2121 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: No
Symptoms Mycobacterial infections:
Symptoms Mycobacterium bovis;
Diagnosis Partial IFN-gamma receptor-1 deficiency
Age 49
Sex XX
Ethnic origin Caucasoid; Germany
Treatment No bone marrow transplantation
Relative IFNGR1base; I0066;
//
ID #I273X275(23b),=; standard; MUTATION; CP
Accession I0066
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code 53T
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 27-Apr-2005 (Rel. 1, Created)
Date 27-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15589309
RefAuthors Dorman, S. E., Picard, C., Lammas, D., Heyne, K., van
RefAuthors Dissel, J. T., Baretto, R., Rosenzweig, S. D., Newport,
RefAuthors M., Levin, M., Roesler, J., Kumararatne, D., Casanova, J.
RefAuthors L., Holland, S. M.
RefTitle Clinical features of dominant and recessive interferon
RefTitle gamma receptor 1 deficiencies.
RefLoc Lancet 364:2113-2121 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: No
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC);
Diagnosis Partial IFN-gamma receptor-1 deficiency
Age 20
Sex XX
Ethnic origin Caucasoid; Germany
Treatment No bone marrow transplantation
Relative IFNGR1base; I0065;
//
ID #I273X275(24a),=; standard; MUTATION; CP,
Accession I0071
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code Case1
Description Allele 1: A frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18972195
RefAuthors Lee, W. I., Huang, J. L., Lin, T. Y., Hsueh, C., Wong, A.
RefAuthors M., Hsieh, M. Y., Chiu, C. H., Jaing, T. H.
RefTitle Chinese patients with defective IL-12/23-interferon-gamma
RefTitle circuit in taiwan: partial dominant interferon-gamma
RefTitle receptor 1 mutation presenting as cutaneous granuloma and
RefTitle IL-12 receptor beta1 mutation as pneumatocele.
RefLoc J Clin Immunol:238-245 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041; GI:184650; IFNGR1C: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms BCG vaccinated: Yes
Symptoms Ipsilateral axillary lymphadenopathy;
Symptoms Osteomyelitis;
Diagnosis Complete IFN-gamma receptor-1 deficiency
Age 1 mo
Sex XY
Ethnic origin China
Relative IFNGR1base; I0072; mother
//
ID #I273X275(24b),=; standard; MUTATION; CP,
Accession I0072
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code Case2
Description Allele 1: A frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18972195
RefAuthors Lee, W. I., Huang, J. L., Lin, T. Y., Hsueh, C., Wong, A.
RefAuthors M., Hsieh, M. Y., Chiu, C. H., Jaing, T. H.
RefTitle Chinese patients with defective IL-12/23-interferon-gamma
RefTitle circuit in taiwan: partial dominant interferon-gamma
RefTitle receptor 1 mutation presenting as cutaneous granuloma and
RefTitle IL-12 receptor beta1 mutation as pneumatocele.
RefLoc J Clin Immunol:238-245 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041; GI:184650; IFNGR1C: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Osteosclerotic lesions; Upper eyelid ulcers;
Symptoms Granulomatous nodules;
Diagnosis Complete IFN-gamma receptor-1 deficiency
Age 41
Sex XX
Ethnic origin China
Relative IFNGR1base; I0071; son
//
ID #I273X275(25),=; standard; MUTATION;
Accession I0073
Systematic name Allele 1: g.51278_51281delTTAA, c.818_821delTTAA,
Systematic name r.818_821deluuaa, p.Asn274fsX2
Original code Case3
Description Allele 1: A frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18972195
RefAuthors Lee, W. I., Huang, J. L., Lin, T. Y., Hsueh, C., Wong, A.
RefAuthors M., Hsieh, M. Y., Chiu, C. H., Jaing, T. H.
RefTitle Chinese patients with defective IL-12/23-interferon-gamma
RefTitle circuit in taiwan: partial dominant interferon-gamma
RefTitle receptor 1 mutation presenting as cutaneous granuloma and
RefTitle IL-12 receptor beta1 mutation as pneumatocele.
RefLoc J Clin Immunol:238-245 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278..51281
Feature /change: -ttaa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041; GI:184650; IFNGR1C: 866..869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273..274
Feature /change: IN -> IHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Osteomyelitis; Cutaneous suppurative granulomas;
Symptoms Lymphadenopathy; Osteosclerosis;
Diagnosis Complete IFN-gamma receptor-1 deficiency
Age 11
Sex XX
Ethnic origin China
//
ID #I273X276(1),=; standard; MUTATION; CP
Accession I0025
Systematic name Allele 1: g.51278delT, c.818delT, r.818delu,
Systematic name p.Asn274fsX3
Original code D.II.3
Description Allele 1: a frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon in the CP domain
Date 03-Sep-2003 (Rel. 1, Created)
Date 03-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10192386
RefAuthors Jouanguy, E., Lamhamedi-Cherradi, S., Lammas, D., Dorman,
RefAuthors S. E., Fondaneche, M. C., Dupuis, S., Doffinger, R.,
RefAuthors Altare, F., Girdlestone, J., Emile, J. F., Ducoulombier,
RefAuthors H., Edgar, D., Clarke, J., Oxelius, V. A., Brai, M.,
RefAuthors Novelli, V., Heyne, K., Fischer, A., Holland, S. M.,
RefAuthors Kumararatne, D. S., Schreiber, R. D., Casanova, J. L.
RefTitle A human IFNGR1 small deletion hotspot associated with
RefTitle dominant susceptibility to mycobacterial infection.
RefLoc Nat Genet 21:370-378 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0041: 51278
Feature /change: -t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273
Feature /change: I -> IIHX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC);
Diagnosis Partial IFN-gamma receptor-1 deficiency
Sex XX
Ethnic origin Caucasoid; Italy
//
ID @I273X274(1),@I273X274(1); standard; MUTATION; CP,CP
Accession I0016
Systematic name Allele 1 and 2: g.51277dupA, c.817dupA, r.817dupa,
Systematic name p.Ile273fsX2
Original code Patient 37
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 6 leading to a premature stop codon in the CP domain
Date 19-Aug-2003 (Rel. 1, Created)
Date 19-Aug-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10959079
RefAuthors Dorman, S. E., Holland, S. M.
RefTitle Interferon-gamma and interleukin-12 pathway defects and
RefTitle human disease.
RefLoc Cytokine Growth Factor Rev 11:321-333 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0041: 51278
Feature /change: +a
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273
Feature /change: I -> NX
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0041: 51278
Feature /change: +a
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 866
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 273
Feature /change: I -> NX
Feature /domain: CP
Symptoms BCG vaccinated: Yes
Symptoms Infected by BCG: Yes
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC);
Symptoms M. chelonei;
Symptoms Other; M. kansasii
Diagnosis Partial IFN-gamma receptor-1 deficiency
Ethnic origin Korean/African
Comment Autosomal dominant partial IFN-gamma receptor 1 deficiency
//
ID E278X(1),=; standard; MUTATION; CP
Accession I0043
Systematic name Allele 1: g.51292G>T, c.832G>T, r.832g>u, p.Glu278X
Original code 7-year-old white female
Description Allele 1: a point mutation in the exon 6 leading to a
Description premature stop codon in the CP domain
Date 04-Sep-2003 (Rel. 1, Created)
Date 04-Sep-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11335768
RefAuthors Villella, A., Picard, C., Jouanguy, E., Dupuis, S., Popko,
RefAuthors S., Abughali, N., Meyerson, H., Casanova, J. L.,
RefAuthors Hostoffer, R. W.
RefTitle Recurrent mycobacterium avium osteomyelitis associated
RefTitle with a novel dominant interferon gamma receptor mutation.
RefLoc Pediatrics 107:E47 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0041: 51292
Feature /change: g -> t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0041: 880
Feature /codon: gaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 278
Feature /change: E -> X
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC); osteomyelitis
Sex XX
Ethnic origin Caucasoid
//
ID L467P(1),=; standard; MUTATION; CP,
Accession I0074
Systematic name Allele 1: g.54101T>C, c.1400T>C, r.1400u>c,
Systematic name p.Leu467Pro
Description Allele 1: A point mutation in the exon 7 leading to
Description an amino acid change in the CP domain
Date 18-Aug-2010 (Rel. 1, Created)
Date 18-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12851715
RefAuthors Aoki, M., Matsui, E., Kaneko, H., Inoue, R., Fukao, T.,
RefAuthors Watanabe, M., Teramoto, T., Kato, Z., Suzuki, K., Suzuki,
RefAuthors Y., Kasahara, K., Kondo, N.
RefTitle A novel single-nucleotide substitution, leu 467 pro, in
RefTitle the interferon-gamma receptor 1 gene associated with
RefTitle allergic diseases.
RefLoc Int J Mol Med:185-191 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0041: 54101
Feature /change: t -> c
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0041; GI:184650; IFNGR1C: 1448
Feature /codon: ctt -> cct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P15260; INGR1_HUMAN: 467
Feature /change: L -> P
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Other clinical features: Allergic diseases;
//
ID L467P(2),=; standard; MUTATION; CP,
Accession I0075
Systematic name Allele 1: g.54101T>C, c.1400T>C, r.1400u>c,
Systematic name p.Leu467Pro
Description Allele 1: A point mutation in the exon 7 leading to
Description an amino acid change in the CP domain
Date 18-Aug-2010 (Rel. 1, Created)
Date 18-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12851715
RefAuthors Aoki, M., Matsui, E., Kaneko, H., Inoue, R., Fukao, T.,
RefAuthors Watanabe, M., Teramoto, T., Kato, Z., Suzuki, K., Suzuki,
RefAuthors Y., Kasahara, K., Kondo, N.
RefTitle A novel single-nucleotide substitution, leu 467 pro, in
RefTitle the interferon-gamma receptor 1 gene associated with
RefTitle allergic diseases.
RefLoc Int J Mol Med:185-191 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0041: 54101
Feature /change: t -> c
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0041; GI:184650; IFNGR1C: 1448
Feature /codon: ctt -> cct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P15260; INGR1_HUMAN: 467
Feature /change: L -> P
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Other clinical features: Allergic diseases;
//
ID L467P(3),=; standard; MUTATION; CP,
Accession I0076
Systematic name Allele 1: g.54101T>C, c.1400T>C, r.1400u>c,
Systematic name p.Leu467Pro
Description Allele 1: A point mutation in the exon 7 leading to
Description an amino acid change in the CP domain
Date 18-Aug-2010 (Rel. 1, Created)
Date 18-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12851715
RefAuthors Aoki, M., Matsui, E., Kaneko, H., Inoue, R., Fukao, T.,
RefAuthors Watanabe, M., Teramoto, T., Kato, Z., Suzuki, K., Suzuki,
RefAuthors Y., Kasahara, K., Kondo, N.
RefTitle A novel single-nucleotide substitution, leu 467 pro, in
RefTitle the interferon-gamma receptor 1 gene associated with
RefTitle allergic diseases.
RefLoc Int J Mol Med:185-191 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0041: 54101
Feature /change: t -> c
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0041; GI:184650; IFNGR1C: 1448
Feature /codon: ctt -> cct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P15260; INGR1_HUMAN: 467
Feature /change: L -> P
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Other clinical features: Allergic diseases;
//
ID L467P(4),=; standard; MUTATION; CP,
Accession I0077
Systematic name Allele 1: g.54101T>C, c.1400T>C, r.1400u>c,
Systematic name p.Leu467Pro
Description Allele 1: A point mutation in the exon 7 leading to
Description an amino acid change in the CP domain
Date 18-Aug-2010 (Rel. 1, Created)
Date 18-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12851715
RefAuthors Aoki, M., Matsui, E., Kaneko, H., Inoue, R., Fukao, T.,
RefAuthors Watanabe, M., Teramoto, T., Kato, Z., Suzuki, K., Suzuki,
RefAuthors Y., Kasahara, K., Kondo, N.
RefTitle A novel single-nucleotide substitution, leu 467 pro, in
RefTitle the interferon-gamma receptor 1 gene associated with
RefTitle allergic diseases.
RefLoc Int J Mol Med:185-191 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0041: 54101
Feature /change: t -> c
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0041; GI:184650; IFNGR1C: 1448
Feature /codon: ctt -> cct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P15260; INGR1_HUMAN: 467
Feature /change: L -> P
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Other clinical features: Allergic diseases;
//
ID L467P(5),=; standard; MUTATION; CP,
Accession I0078
Systematic name Allele 1: g.54101T>C, c.1400T>C, r.1400u>c,
Systematic name p.Leu467Pro
Description Allele 1: A point mutation in the exon 7 leading to
Description an amino acid change in the CP domain
Date 18-Aug-2010 (Rel. 1, Created)
Date 18-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12851715
RefAuthors Aoki, M., Matsui, E., Kaneko, H., Inoue, R., Fukao, T.,
RefAuthors Watanabe, M., Teramoto, T., Kato, Z., Suzuki, K., Suzuki,
RefAuthors Y., Kasahara, K., Kondo, N.
RefTitle A novel single-nucleotide substitution, leu 467 pro, in
RefTitle the interferon-gamma receptor 1 gene associated with
RefTitle allergic diseases.
RefLoc Int J Mol Med:185-191 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0041: 54101
Feature /change: t -> c
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0041; GI:184650; IFNGR1C: 1448
Feature /codon: ctt -> cct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P15260; INGR1_HUMAN: 467
Feature /change: L -> P
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Other clinical features: Allergic diseases;
//
ID L467P(6),=; standard; MUTATION; CP,
Accession I0079
Systematic name Allele 1: g.54101T>C, c.1400T>C, r.1400u>c,
Systematic name p.Leu467Pro
Description Allele 1: A point mutation in the exon 7 leading to
Description an amino acid change in the CP domain
Date 18-Aug-2010 (Rel. 1, Created)
Date 18-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12851715
RefAuthors Aoki, M., Matsui, E., Kaneko, H., Inoue, R., Fukao, T.,
RefAuthors Watanabe, M., Teramoto, T., Kato, Z., Suzuki, K., Suzuki,
RefAuthors Y., Kasahara, K., Kondo, N.
RefTitle A novel single-nucleotide substitution, leu 467 pro, in
RefTitle the interferon-gamma receptor 1 gene associated with
RefTitle allergic diseases.
RefLoc Int J Mol Med:185-191 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0041: 54101
Feature /change: t -> c
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0041; GI:184650; IFNGR1C: 1448
Feature /codon: ctt -> cct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P15260; INGR1_HUMAN: 467
Feature /change: L -> P
Feature /domain: CP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms Other clinical features: Allergic diseases;
//
ID Intron 2(1),Intron 2(1); standard; MUTATION;
Accession I0007
Systematic name Allele 1 and 2: g.IVS2-2A>G, c.201-2A>G, r.201-2a>g,
Original code Patient 1
Description Allele 1 and 2: a point mutation in the intron 2 leading to
Description an amino acid change
Date 14-Aug-2003 (Rel. 1, Created)
Date 14-Aug-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Holland, S.M, Dorman, S.E., Kwon, A., Pitha-Rowe, I.F.
RefAuthors Frucht, D.M., Gerstberger, S.M., Noel, G.J., Vesterhus,
RefAuthors P., Brown, M.R., Fleisher, T.A.
RefTitle Abnormal regulation of interferon-gamma, interleukin-12,
RefTitle and tumor necrosis factor-alpha in human interferon-gamma
RefTitle receptor 1 deficiency
RefLoc J Infect Dis 178:1095-104 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0041: 45892
Feature /change: a -> g
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0041: 249..350
Feature /change: -tgttaagaat tcagaatgga ttgatgcctg catcaatatt
Feature /change: tctcatcatt attgtaatat ttctgatcat gttggtgatc
Feature /change: catcaaattc tctttgggtc ag
Feature /inexloc: -2
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P15260; INGR1_HUMAN: 67..101
Feature /change: GVKNSEWIDA CINISHHYCN ISDHVGDPSN SLWVR -> G
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0041: 45892
Feature /change: a -> g
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0041: 249..350
Feature /change: -tgttaagaat tcagaatgga ttgatgcctg catcaatatt
Feature /change: tctcatcatt attgtaatat ttctgatcat gttggtgatc
Feature /change: catcaaattc tctttgggtc ag
Feature /inexloc: -2
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P15260; INGR1_HUMAN: 67..101
Feature /change: GVKNSEWIDA CINISHHYCN ISDHVGDPSN SLWVR -> G
Feature /domain: EC
Symptoms Mycobacterial infections:
Symptoms M. avium complex (MAC); persistent disease manifested by
Symptoms fever, hepatosplenomegaly, pneumonia, anemia, marked
Symptoms leukocytosis, postive cultures, organomegaly and
Symptoms pulmonary infiltrates
Symptoms Other clinical features: cytomegalovirus infection with
Symptoms pneumonia
Diagnosis Complete IFN-gamma receptor-1 deficiency
Sex XY
Ethnic origin Caucasoid; United States
Parents Consanguineous
//
ID Intron 3(2),Intron 3(2); standard; MUTATION;
Accession I0069
Systematic name Allele 1 and 2: g.IVS3+1G>T, c.373+1G>T, r.373+1g>u
Original code Patient 2
Description Allele 1 and 2: A point mutation in the intron 3 leading to
Description an amino acid change
Date 28-Sep-2007 (Rel. 1, Created)
Date 28-Sep-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17514500
RefAuthors Noordzij, J. G., Hartwig, N. G., Verreck, F. A., De Bruin-
RefAuthors Versteeg, S., De Boer, T., Dissel, J. T., De Groot, R.,
RefAuthors Ottenhoff, T. H., Van Dongen, J. J.
RefTitle Two patients with complete defects in interferon gamma
RefTitle receptor-dependent signaling.
RefLoc J Clin Immunol:490-496 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0041: 46067
Feature /change: g -> t
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 249..421
Feature /change: -tgttaagaat tcagaatgga ttgatgcctg catcaatatt
Feature /change: tctcatcatt attgtaatat ttctgatcat gttggtgatc
Feature /change: catcaaattc tctttgggtc agagttaaag ccagggttgg
Feature /change: acaaaaagaa tctgcctatg caaagtcaga agaatttgct
Feature /change: gtatgccgag atg
Feature /inexloc: +1
Feature /note: skipping of exon 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 67..125
Feature /change: GVKNSEWIDA CINISHHYCN ISDHVGDPSN SLWVRVKARV
Feature /change: GQKESAYAKS EEFAVCRDG
Feature /change: ->
Feature /change: GKNWTTX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0041: 46067
Feature /change: g -> t
Feature /genomic_region: intron; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0041: 249..421
Feature /change: -tgttaagaat tcagaatgga ttgatgcctg catcaatatt
Feature /change: tctcatcatt attgtaatat ttctgatcat gttggtgatc
Feature /change: catcaaattc tctttgggtc agagttaaag ccagggttgg
Feature /change: acaaaaagaa tctgcctatg caaagtcaga agaatttgct
Feature /change: gtatgccgag atg
Feature /inexloc: +1
Feature /note: skipping of exon 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P15260; INGR1_HUMAN: 67..125
Feature /change: GVKNSEWIDA CINISHHYCN ISDHVGDPSN SLWVRVKARV
Feature /change: GQKESAYAKS EEFAVCRDG
Feature /change: ->
Feature /change: GKNWTTX
Feature /domain: EC
Symptoms BCG vaccinated: No
Symptoms Mycobacterial infections:
Symptoms M. szulgai;
Symptoms Other; M. gordonae, M. peregrinum, M. mageritense
Diagnosis Complete IFN-gamma receptor-1 deficiency
Age 19
Sex XY
Ethnic origin Caucasoid; Dutch
Parents Non-consanguineous
//
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