European Journal of Pediatrics

, Volume 164, Issue 5, pp 311–314

Severe combined immunodeficiency caused by a splicing abnormality of the CD3δ gene

Authors

    • Department of Paediatrics, Graduate School of Medical SciencesKyushu University
  • Akihiko Nomura
    • Department of Paediatrics, Graduate School of Medical SciencesKyushu University
  • Chaim M. Roifman
    • Division of Immunology and Allergy, Infection, Immunity,and Injury and Repair Program Research Institute and Hospital for Sick Children
  • Toshiro Hara
    • Department of Paediatrics, Graduate School of Medical SciencesKyushu University
Original Paper

DOI: 10.1007/s00431-005-1639-6

Cite this article as:
Takada, H., Nomura, A., Roifman, C.M. et al. Eur J Pediatr (2005) 164: 311. doi:10.1007/s00431-005-1639-6

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.

Keywords

CD3 deltaSevere combined immunodeficiencyT-cellsThymus

Abbreviations

NK

natural killer

SCID

severe combined immunodeficiency

Copyright information

© Springer-Verlag 2005