1. Severe combined immunodeficiency caused by a splicing abnormality of the CD3delta gene.
- Author
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Takada, Hidetoshi, Nomura, Akihiko, Roifman, Chaim, Hara, Toshiro, and Roifman, Chaim M
- Subjects
IMMUNODEFICIENCY ,T cells ,B cells ,KILLER cells ,RNA splicing ,LYMPHOCYTE metabolism ,ANTIGENS ,ASIANS ,GENES ,GENETIC mutation ,RNA ,THYMUS ,SEVERE combined immunodeficiency - Abstract
Unlabelled: 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.Conclusion: 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. [ABSTRACT FROM AUTHOR]- Published
- 2005
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