Severe combined immunodeficiency caused by a splicing abnormality of the CD3delta gene.
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.
Takada
Hidetoshi
H
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
Nomura
Akihiko
A
Roifman
Chaim M
CM
Hara
Toshiro
T
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
D017252:CD3 Complex
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