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Updated: Aug 19, 2026

Combined Immunofluorescence and DNA FISH on 3D-preserved Interphase Nuclei to Study Changes in 3D Nuclear Organization
Published on: February 3, 2013
Severe combined immunodeficiency caused by a splicing abnormality of the CD3delta gene
Hidetoshi Takada1, Akihiko Nomura, Chaim M Roifman
1Department of Paediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, 812-8582 Higashi-ku, Fukuoka, Japan. takadah@pediatr.med.kyushu-u.ac.jp
Unlabelled:
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.
Conclusion:
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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