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      Severe combined immunodeficiency caused by a splicing abnormality of the CD3delta gene.

      European Journal of Pediatrics

      Antigens, CD3, genetics, Asian Continental Ancestry Group, Female, Humans, Infant, Introns, Japan, abnormalities, Lymphocytes, metabolism, Male, Mutation, Severe Combined Immunodeficiency, Thymus Gland, Alternative Splicing

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          Abstract

          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. 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.

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          15729559
          10.1007/s00431-005-1639-6

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