Severe combined immunodeficiency caused by a splicing abnormality of the CD3δ gene (original) (raw)
Abstract
CD3δ deficiency is a recently identified rare form of severe combined immunodeficiency. We analysed the CD3δ 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 CD3δ splicing abnormality. Chest X-ray films and computed tomography revealed small sized thymuses in these patients. _Conclusion:_The CD3δ 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.
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Abbreviations
NK :
natural killer
SCID :
severe combined immunodeficiency
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Authors and Affiliations
- Department of Paediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, 812-8582, Higashi-ku, Fukuoka , Japan
Hidetoshi Takada, Akihiko Nomura & Toshiro Hara - Division of Immunology and Allergy, Infection, Immunity,and Injury and Repair Program , Research Institute and Hospital for Sick Children, Toronto, Canada
Chaim M. Roifman
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- Hidetoshi Takada
You can also search for this author inPubMed Google Scholar - Akihiko Nomura
You can also search for this author inPubMed Google Scholar - Chaim M. Roifman
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Correspondence toHidetoshi Takada.
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Takada, H., Nomura, A., Roifman, C.M. et al. Severe combined immunodeficiency caused by a splicing abnormality of the CD3δ gene.Eur J Pediatr 164, 311–314 (2005). https://doi.org/10.1007/s00431-005-1639-6
- Received: 02 December 2004
- Accepted: 19 January 2005
- Published: 24 February 2005
- Issue Date: May 2005
- DOI: https://doi.org/10.1007/s00431-005-1639-6