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Abstract Severe combined immunodeficiency (SCID) with a normal number of B-lymphocytes usually demonstrates an X-linked inheritance and now is regarded as an interleukin-2-receptor (IL-2R) -chain gene defect. Here, we report the characterization of mutations in the IL-2R -chain gene of six unrelated SCID patients. One large deletion, one short deletion, one nonsense mutation and three single missense...
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