Database CD3Gbase
Version 1.2
File cd3gpub.html
Date 21-Aug-2008
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/CD3Gbase/
Disease Autosomal recessive CD3gamma immunodeficiency
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF21.html
Gene CD3G
Disease Autosomal recessive CD3gamma immunodeficiency
OMIM 186740
GDB 119765
Sequence EMBL:X06026; EMBL:X06027; EMBL:X06028;
Sequence EMBL:X06029; EMBL:X06030; EMBL:X06031;
Sequence EMBL:X06032; EMBL:X04145; UniProt;P09693
Numbering Start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
Comments An other related database: CD3Ebase
//
ID M1X(1a),Intron 2(1a); standard; MUTATION; LP,EX
Accession G0001
Original code DSF(III-2)
Description Allele 1; mutation altering initiation codon
Description Allele 2; point mutation at intron 2 leading to splice
Description defect
Date 10-Feb-1999 (Rel. 1, Created)
Date 23-Oct-2000 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 2872416
RefAuthors Regueiro, J.R., Arnaiz-Villena, A., Ortiz de Landazuri, M.,
RefAuthors Martin Villa, J. M., Vicario, J. L., Pascual-Ruiz, V.,
RefAuthors Guerra-Garcia, F., Alcami, J., Lopez-Botet, M.,
RefAuthors Manzanares, J.
RefTitle Familial defect of CD3 (T3) expression by T cells
RefTitle associated with rare gut epithelial cell autoantibodies
RefLoc Lancet. 1:1274-1275 (1986)
RefNumber [2]
RefCrossRef PUBMED; 2253681
RefAuthors Regueiro, J. R., Perez-Aeiego, P., Aparicio, P., Martinez,
RefAuthors C., Morales, P., Arnaiz-Villena, A.
RefTitle Low IgG2 and polysaccharide response in a T cell receptor
RefTitle expression defect
RefLoc Eur. J. Immunol. 20:2411-2416 (1990)
RefNumber [3]
RefCrossRef PUBMED; 1635567
RefAuthors Arnaiz-Villena, A., Timon, M., Corell, A., Perez-Aciego P,
RefAuthors Martin-Villa, J. M., Regueiro, J. R.
RefTitle Brief report: primary immunodeficiency caused by mutations
RefTitle in the gene encoding the CD3-gamma subunit of the T-lymphocyte
RefTitle receptor
RefLoc N. Engl. J. Med. 327:529-533 (1992)
RefNumber [4]
RefCrossRef PUBMED; 8325321
RefAuthors Timon, M., Arnaiz-Villena, A., Rodriguez-Gallego, C.,
RefAuthors Perez-Aciego, P., Pacheco, A., Regueiro, J. R.
RefTitle Selective disbalances of peripheral blood T lymphocyte
RefTitle subsets in human CD3 gamma deficiency
RefLoc Eur. J. Immunol. 23:1440-1444 (1993)
RefNumber [5]
RefAuthors Regueiro, J. R., Pacheco, A., Alvarez-Zapata, D., Corell,
RefAuthors A., Sun, J. Y., Millan, R., Arnaiz-Villena, A.
RefTitle CD3 Deficiencies
RefLoc In: Ochs, H., Puck, J., Smith, E., (Eds.), Primary
RefLoc immunodeficiency diseases, Oxford University Press,
RefLoc 189-196 (1998)
RefNumber [6]
RefAuthors Zapata, D. A., Pacheco-Castro, A., Torres, P. S., Millan,
RefAuthors R., Regueiro, J. R.
RefTitle CD3 immunodeficiencies
RefLoc In: Roifman, C. M. (ed.), Immunology and Allergy Clinics
RefLoc of North America: Inherited T cell Immunodeficiencies. WB
RefLoc Saunders Co., Philadelphia, Vol. 20, (2000)
DB CrossRef OMIM; 186740.0001
DB CrossRef OMIM; 186740.0002
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink; 2
Feature /name: point
Feature /loc: EMBL: HSTCR3G1: 1380
Feature /change: a -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink; 1
Feature /aalink; 3
Feature /name: initiation_codon
Feature /loc: EMBL: X04145; g115993; HSTCRGT3: 38
Feature /codon: atg -> gtg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: no translation
Feature /loc: UniProt: P09693; CD3G_HUMAN: 1
Feature /change: M -> V
Feature /domain: LP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink; 5
Feature /name: point
Feature /loc: EMBL: HSTCR3G3: 27
Feature /change: g -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink; 4
Feature /aalink; 6
Feature /name: loss of exon sequence; frameshift
Feature /loc: EMBL: X04145; g115993; HSTCRGT3: 1790
Feature /inexloc: -1
Feature /change: -gaaaccactt ggttaag
Feature /note: a new splice site at the begining of exon 3
Feature /genomic_region: exon; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P09693; CD3G_HUMAN: 27
Feature /change: G -> GVX
Feature /domain: EX
Sex XY
Age 4
Ethnic origin Caucasoid; Spain
Family history Inherited
CD3 Low
CD3 expression on CD4+ PBL; Low (1/5)
CD3 expression on CD8+ PBL; Very low (1/10)
TCR expression alfabeta BNA031, WT31; Very low (1/10)
TCR expression Vbeta12; Low (1/4)
TCR expression gammadelta, TCRdelta1; Low (1/4)
Total lymphoc Normal/low
B cells Normal
NK cells Normal
T cells Normal/low
CD2+ Normal
CD3+ Low
CD4+ Normal/low
CD8+ Low
CD45RA+ Very low
CD45RO+ Normal
GammaDelta Low/normal
TCRVbeta usage Normal
B cell function IgA; Normal
B cell function IgE; Normal
B cell function IgG; Normal
B cell function IgG2; Low
B cell function IgM; Normal
B cell function Isohemagglutinins; Low
B cell function Antibody responses to proteins; Normal
B cell function Antibody responses to polysaccharides; Low
T cell function PHA; Low
T cell function Anti-CD3 (OKT3); Low
T cell function Anti-CD2 + PMA; Normal
T cell function Tetanus toxoid; Low/normal
T cell function Alloantigens; Low
T cell function Candidin; NT
T cell function PMA + ionomycin; Normal
Autoimmune Absent
Present status Healthy at the age of 18 years in 1999; Presently under
Present status chronic treatment for his dilated cardiomyopathy; also
Present status receives sporadic antibiotic treatment when specific
Present status symptoms develop
//
ID M1X(1b),Intron 2(1b); standard; MUTATION; LP,EX
Accession G0002
Original code VSF(III-3)
Description Allele 1; mutation altering initiation codon
Description Allele 2; point mutation at intron 2 leading to splice
Description defect
Date 10-Feb-1999 (Rel. 1, Created)
Date 23-Oct-2000 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 2872416
RefAuthors Regueiro, J.R., Arnaiz-Villena, A., Ortiz de Landazuri, M.,
RefAuthors Martin Villa, J. M., Vicario, J. L., Pascual-Ruiz, V.,
RefAuthors Guerra-Garcia, F., Alcami, J., Lopez-Botet, M.,
RefAuthors Manzanares, J.
RefTitle Familial defect of CD3 (T3) expression by T cells
RefTitle associated with rare gut epithelial cell autoantibodies
RefLoc Lancet. 1:1274-5 (1986)
RefNumber [2]
RefCrossRef PUBMED; 2253681
RefAuthors Regueiro, J. R., Perez-Aeiego, P., Aparicio, P., Martinez,
RefAuthors C., Morales, P., Arnaiz-Villena, A.
RefTitle Low IgG2 and polysaccharide response in a T cell receptor
RefTitle expression defect
RefLoc Eur. J. Immunol. 20:2411-2416 (1990)
RefNumber [3]
RefCrossRef PUBMED; 1635567
RefAuthors Arnaiz-Villena, A., Timon, M., Corell, A., Perez-Aciego P,
RefAuthors Martin-Villa, J. M., Regueiro, J. R.
RefTitle Brief report: primary immunodeficiency caused by mutations
RefTitle in the gene encoding the CD3-gamma subunit of the T-lymphocyte
RefTitle receptor
RefLoc N. Engl. J. Med. 327:529-33 (1992)
RefNumber [4]
RefAuthors Regueiro, J. R., Pacheco, A., Alvarez-Zapata, D., Corell,
RefAuthors A., Sun, J. Y., Millan, R., Arnaiz-Villena, A.
RefTitle CD3 Deficiencies
RefLoc In: Ochs, H., Puck, J., Smith, E., (Eds.), Primary
RefLoc immunodeficiency diseases, Oxford University Press,
RefLoc 189-196 (1998)
RefNumber [5]
RefAuthors Zapata, D. A., Pacheco-Castro, A., Torres, P. S., Millan,
RefAuthors R., Regueiro, J. R.
RefTitle CD3 immunodeficiencies
RefLoc In: Roifman, C. M. (ed.), Immunology and Allergy Clinics
RefLoc of North America: Inherited T cell Immunodeficiencies. WB
RefLoc Saunders Co., Philadelphia, Vol. 20, (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink; 2
Feature /name: point
Feature /loc: EMBL: HSTCR3G1: 1380
Feature /change: a -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink; 1
Feature /aalink; 3
Feature /name: initiation_codon
Feature /loc: EMBL: X04145; g115993; HSTCRGT3: 38
Feature /codon: atg -> gtg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: no translation
Feature /loc: UniProt: P09693; CD3G_HUMAN: 1
Feature /change: M -> V
Feature /domain: LP
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink; 5
Feature /name: point
Feature /loc: EMBL: HSTCR3G3: 27
Feature /change: g -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink; 4
Feature /aalink; 6
Feature /name: loss of exon sequence; frameshift
Feature /loc: EMBL: X04145; g115993; HSTCRGT3: 1790
Feature /inexloc: -1
Feature /change: -gaaaccactt ggttaag
Feature /note: a new splice site at the begining of exon 3
Feature /genomic_region: exon; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P09693; CD3G_HUMAN: 27
Feature /change: G -> GVX
Feature /domain: EX
Sex XY
Age 1
Ethnic origin Caucasoid; Spain
Family history Inherited
CD3 Low
CD3 expression on CD4+ PBL; NT
CD3 expression on CD8+ PBL; NT
TCR expression alfabeta BNA031, WT31; NT
TCR expression Vbeta12; NT
TCR expression gammadelta, TCRdelta; NT
Total lymphoc Normal
B cells Normal
NK cells Normal
T cells Normal
CD2+ Normal
CD3+ Low
CD4+ Normal
CD8+ Normal
CD45RA+ NT
CD45RO+ NT
GammaDelta NT
TCRVbeta usage NT
B cell function IgA; Normal
B cell function IgE; Normal
B cell function IgG; Normal
B cell function IgG2; Low
B cell function IgM; Normal
B cell function Isohemagglutinins; Normal
B cell function Antibody responses to proteins; Normal
B cell function Antibody responses to polysaccharides; Low
T cell function PHA; Low
T cell function Anti-CD3 (OKT3); Low
T cell function Anti-CD2 + PMA; Normal
T cell function Tetanus toxoid; Low
T cell function Alloantigens; Low
T cell function Candidin; NT
T cell function PMA + ionomycin; NT
Autoimmune Present
Present status Deceased at the age of 2.7
//
ID K69X(1),K69X(1); standard; MUTATION; EX,EX
Accession G0003
Original code FK
Description Allele 1 and 2; nonsense mutation in the exon 3 leading
Description to stop codon in the EX domain
Date 10-Feb-1999 (Rel. 1, Created)
Date 23-Oct-2000 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefAuthors Regueiro, J. R., Pacheco, A., Alvarez-Zapata, D., Corell,
RefAuthors A., Sun, J. Y., Millan, R., Arnaiz-Villena, A.
RefTitle CD3 Deficiencies
RefLoc In: Ochs, H., Puck, J., Smith, E., (Eds.), Primary
RefLoc immunodeficiency diseases, Oxford University Press,
RefLoc 189-196 (1998)
RefNumber [2]
RefAuthors Zapata, D. A., Pacheco-Castro, A., Torres, P. S., Millan,
RefAuthors R., Regueiro, J. R.
RefTitle CD3 immunodeficiencies
RefLoc In: Roifman, C. M. (ed.), Immunology and Allergy Clinics
RefLoc of North America: Inherited T cell Immunodeficiencies. WB
RefLoc Saunders Co., Philadelphia, Vol. 20, (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink; 2
Feature /name: point
Feature /loc: EMBL: HSTCR3G3: 153
Feature /change: a -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink; 1
Feature /aalink; 3
Feature /name: nonsense
Feature /loc: EMBL: X04145; g115993; HSTCRGT3: 242
Feature /codon: aaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P09693; CD3G_HUMAN: 69
Feature /change: K -> X
Feature /domain: EX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink; 5
Feature /name: point
Feature /loc: EMBL: HSTCR3G3: 153
Feature /change: a -> t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink; 4
Feature /aalink; 6
Feature /name: nonsense
Feature /loc: EMBL: X04145; g115993; HSTCRGT3: 242
Feature /codon: aaa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P09693; CD3G_HUMAN: 69
Feature /change: K -> X
Feature /domain: EX
Sex XY
Age 4
Ethnic origin Caucasoid; Turkey
Family history Inherited
Parents Consanguineous
CD3 Low (1/3-1/4)
CD3 expression on CD4+ PBL; Low (1/3-1/4)
CD3 expression on CD8+ PBL; Low (1/4-1/6)
TCR expression alfabeta BNA031, WT31; Low (1/4)
TCR expression Vbeta12; NT
TCR expression gammadelta, TCRdelta; Low (1/2)
Total lymphoc Normal/low
B cells Normal
NK cells Normal
T cells Low
CD2+ Low
CD3+ Low
CD4+ Low
CD8+ Low
CD45RA+ Very low
CD45RO+ Normal
GammaDelta Low
TCRVbeta usage Normal
B cell function IgA; Normal
B cell function IgE; Normal
B cell function IgG; Normal
B cell function IgG2; Normal
B cell function IgM; Low
B cell function Isohemagglutinins; Normal
B cell function Antibody responses to proteins; Normal
B cell function Antibody responses to polysaccharides; NT
T cell function PHA; Low
T cell function Anti-CD3 (OKT3); Low
T cell function Anti-CD2 + PMA; NT
T cell function Tetanus toxoid; Low
T cell function Alloantigens; NT
T cell function Candidin; NT
T cell function PMA + ionomycin; NT
Autoimmune Present
Present status Healthy at the age of 10 years in 1999; under prophylactic
Present status intravenuous immunoglobulin therapy
//
ID K69X(2),K69X(2); standard; MUTATION; EC,EC
Accession A0004
Systematic name Allele 1 and 2: g.6483A>T, c.205A>T, r.205a>u, p.Lys69X
Original code IV: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 21-Apr-2008 (Rel. 1, Created)
Date 21-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17277165
RefAuthors Recio, M. J., Moreno-Pelayo, M. A., Kilix, S. S., Guardo,
RefAuthors A. C., Sanal, O., Allende, L. M., Perez-Flores, V.,
RefAuthors Mencia, A., Modamio-Hoybjor, S., Seoane, E., Regueiro, J.
RefAuthors R.
RefTitle Differential biological role of CD3 chains revealed by
RefTitle human immunodeficiencies.
RefLoc J Immunol:2556-2564 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0098: 6483
Feature /change: a -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0098; GI:115993; CD3GC: 237
Feature /codon: aaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: CD3G_HUMAN: 69
Feature /change: K -> X
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0098: 6483
Feature /change: a -> t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0098; GI:115993; CD3GC: 237
Feature /codon: aaa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: CD3G_HUMAN: 69
Feature /change: K -> X
Feature /domain: EC
Symptoms Chronic diarrhea, pulmonary infections, recurrent otitis
Symptoms media, oral moniliasis, severe diaper dermatitis, perianal
Symptoms fistula
Age 0,7
Sex XY
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Total lymphoc 2180
IgA 84
IgG 847
IgM 41
CD3 27
CD4 21
CD8 21
CD16 18
CD19 43
Treatment Bone marrow transplantation: Yes
Treatment Outcome
Treatment BMT-related problems: death, Pneunomia
Comment Brother of patient had CD3G deficiency (not tested) and
Comment died to Sepsis in 9 months age.
//
|
