title: Severe combined immunodeficiency caused by a splicing abnormality of the CD3delta gene.
abstract: CD3delta deficiency is a recently identified rare form of severe combined immunodeficiency. We analysed the CD3delta gene in a Japanese family with severe combined immunodeficiency. The patients lacked T-cells with normal numbers of B-cells and natural killer cells in peripheral blood. We found a novel homozygous mutation in the splicing acceptor site of intron 2 (IVS2-2A --> G) in these patients. Analysis of patients' mononuclear cells revealed the CD3delta splicing abnormality. Chest X-ray films and computed tomography revealed small sized thymuses in these patients.
  
  
  CONCLUSIONS
  The CD3delta gene should be analysed in patients with severe combined immunodeficiency lacking T-cells with normal B- and natural killer cells irrespective of the thymus size.
authors.affiliation: Department of Paediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, 812-8582 Higashi-ku, Fukuoka, Japan. takadah@pediatr.med.kyushu-u.ac.jp
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Takada
authors.forename: Akihiko
authors.initials: A
authors.lastname: Nomura
authors.forename: Chaim M
authors.initials: CM
authors.lastname: Roifman
authors.forename: Toshiro
authors.initials: T
authors.lastname: Hara
mesh_terms: D017398:Alternative Splicing; D044466:Asian People / Q000235:genetics; D017252:CD3 Complex / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007438:Introns; D007564:Japan; D008214:Lymphocytes / Q000378:metabolism; D008297:Male; D009154:Mutation; D016511:Severe Combined Immunodeficiency / Q000235:genetics*; D013950:Thymus Gland / Q000002:abnormalities
chemical_list: D017252:CD3 Complex
references.citation: N Engl J Med. 2003 Nov 6;349(19):1821-8
references.pmid: 14602880
references.citation: EMBO J. 1997 Mar 17;16(6):1360-70
references.pmid: 9135151
references.citation: Nature. 2000 Jul 27;406(6794):426-30
references.pmid: 10935641
references.citation: N Engl J Med. 1992 Aug 20;327(8):529-33
references.pmid: 1635567
references.citation: J Exp Med. 1997 Nov 3;186(9):1461-7
references.pmid: 9348303
references.citation: J Exp Med. 1992 Apr 1;175(4):1055-66
references.pmid: 1372642
references.citation: Nat Genet. 1993 Jan;3(1):77-81
references.pmid: 8490660
references.citation: Nat Genet. 1998 Dec;20(4):394-7
references.pmid: 9843216
references.citation: J Clin Invest. 2004 Nov;114(10):1512-7
references.pmid: 15546002
references.citation: Annu Rev Immunol. 1997;15:433-52
references.pmid: 9143695