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

  1. 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
  2. Division of Immunology and Allergy, Infection, Immunity,and Injury and Repair Program , Research Institute and Hospital for Sick Children, Toronto, Canada
    Chaim M. Roifman

Authors

  1. Hidetoshi Takada
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  2. Akihiko Nomura
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  3. Chaim M. Roifman
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  4. Toshiro Hara
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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

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