Database CD3Ebase
Version 1.3
File cd3epub.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/CD3Ebase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF20.html
Gene CD3E
Disease Autosomal recessive CD3epsilon immunodeficiency
OMIM 186830
GDB 119764
Sequence EMBL:M23317; EMBL:M23318; EMBL:M23319;
Sequence EMBL:M23320; EMBL:M23321; EMBL:L34846;
Sequence EMBL:M23322; EMBL:M23323;
Sequence EMBL:X03884; UniProt:P07766
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: CD3Gbase
//
ID #T43X55(1),#T43X55(1); standard; MUTATION; EC,EC
Accession A0002
Systematic name Allele 1 and 2: g.8906_8907delCC, c.128_129delCC,
Systematic name r.128_129delcc, p.Thr43fsX13
Original code PI-3
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 12-Sep-2006 (Rel. 1, Created)
Date 12-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15546002
RefAuthors de Saint Basile, G., Geissmann, F., Flori, E., Uring-
RefAuthors Lambert, B., Soudais, C., Cavazzana-Calvo, M., Durandy,
RefAuthors A., Jabado, N., Fischer, A., Le Deist, F.
RefTitle Severe combined immunodeficiency caused by deficiency in
RefTitle either the delta or the epsilon subunit of CD3.
RefLoc J Clin Invest:1512-1517 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0097: 8906..8907
Feature /change: -cc
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0097; GI:1345708; CD3EC: 182..183
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07766; CD3E_HUMAN: 43
Feature /change: T -> NSNIDMPSVS WIX
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0097: 8906..8907
Feature /change: -cc
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0097; GI:1345708; CD3EC: 182..183
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P07766; CD3E_HUMAN: 43
Feature /change: T -> NSNIDMPSVS WIX
Feature /domain: EC
Sex XX
Parents Consanguineous
//
ID W57X(1),Intron 7(1); standard; MUTATION; EX,TM
Accession E0001
Original code PT
Description Allele 1; nonsense mutation in the exon 6 leading to stop
Description codon in the EX domain and
Description Allele 2; point mutation at intron 7 leading to large
Description deletion from the protein structure
Date 10-Feb-1999 (Rel. 1, Created)
Date 23-Oct-2000 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 1676369
RefAuthors Le Deist, F., Thoenes, G., Corado, J., Lisowska-Grospierre,
RefAuthors B., Fischer, A.
RefTitle Immunodeficiency with low expression of the T cell
RefTitle receptor/CD3 complex. Effect on T lymphocyte activation
RefLoc Eur. J. Immunol. 21:1641-1647 (1991)
RefNumber [2]
RefCrossRef PUBMED; 8490660
RefAuthors Soudais, C., de Villartay, J. P., Le Deist, F., Fischer,
RefAuthors A., Lisowska-Grospierre, B.
RefTitle Independent mutations of the human CD3-epsilon gene
RefTitle resulting in a T cell receptor/CD3 complex immunodeficiency
RefLoc Nat. Genet. 3:77-81 (1993)
RefNumber [3]
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 [4]
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; 186830.0001
DB CrossRef OMIM; 186830.0002
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink; 2
Feature /name: point
Feature /loc: EMBL: HSCD3E05: 87
Feature /change: g -> a
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink; 1
Feature /aalink; 3
Feature /name: nonsense
Feature /loc: EMBL: X03884; g1345708; : 230
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: no translation
Feature /loc: UniProt: P07766; CD3E_HUMAN: 57
Feature /change: W -> X
Feature /domain: EX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink; 5
Feature /name: point
Feature /loc: EMBL: HSCD3E06: 173
Feature /change: t -> c
Feature /genomic_region: intron; 7
Feature rna; 5
Feature /dnalink; 4
Feature /aalink; 6
Feature /name: loss of exon sequence; inframe
Feature /loc: EMBL: X03884; g1345708; : 1790
Feature /inexloc: +2
Feature /change: - tgtgtgagaa ctgcatggag atggatgtga tgtcggtggc
Feature /change: cacaattgtc atagtggaca tctgcatcac tgggggcttg
Feature /change: ctgctgctgg tttactactg gagcaagaat agaaaggcca
Feature /change: aggccaagcc tgtgacacga ggagcgggtg ctggcggcag
Feature /change: gcaaaggg
Feature /note: deletion of exon 7
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P07766; CD3E_HUMAN: 118..173
Feature /change: - VCENCMEMDV MSVATIVIVD ICITGGLLLL VYYWSKNRKA
Feature /change: KAKPVTRGAG AGGRQR
Feature /domain: TM
Sex XY
Age 2
Ethnic origin Caucasoid; France
Family history Inherited
CD3 Very low
CD3 expression on CD4+ PBL; Very low (1/10)
CD3 expression on CD8+ PBL; Very low (1/10)
TCR expression alfabeta BNA031, WT31; Very low
TCR expression Vbeta12; NT
TCR expression gammadelta, TCRdelta1; Very low
Total lymphoc Normal
B cells Normal
NK cells High
T cells Normal
CD2+ Normal
CD3+ Low
CD4+ Low
CD8+ Normal
CD45RA+ Normal
CD45RO+ Normal
GammaDelta Low/Normal
TCRVbeta usage Normal
B cell function IgA; Normal/high
B cell function IgE; Normal/high
B cell function IgG; Normal/high
B cell function IgG2; NT
B cell function IgM; Normal/high
B cell function Isohemagglutinins; Low
B cell function Antibody responses to proteins; Normal/low
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; Low
T cell function Tetanus toxoid; Normal
T cell function Alloantigens; Normal
T cell function Candidin; Normal
T cell function PMA + ionomycin; Normal
Autoimmune Absent
Present status Healthy at the age of 10 years in 1999; under prophylactic
Present status intravenuous immunoglobulin and antibiotic therapy
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