摘要
CD3δdeficiency is a recently identified rare form of severe combined immunode ficiency. We analysed the CD3δgene in a Japanese family with severe combined im munodeficiency. 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. Analy sis of patients’mononuclear cells revealed the CD3δsplicing abnormality. Chest X-ray films and computed tomography revealed small sized thymuses in these pat ients. Conclusion:The CD3δgene should be analysed in patients with severe combi ned immunodeficiency lacking T-cells with normal B-and natural killer cells ir respective of the thymus size.
CD3δdeficiency is a recently identified rare form of severe combined immunode ficiency. We analysed the CD3δgene in a Japanese family with severe combined im munodeficiency. 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. Analy sis of patients'mononuclear cells revealed the CD3δsplicing abnormality. Chest X-ray films and computed tomography revealed small sized thymuses in these pat ients. Conclusion:The CD3δgene should be analysed in patients with severe combi ned immunodeficiency lacking T-cells with normal B-and natural killer cells ir respective of the thymus size.
