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Wednesday 8 February 2006


- germline mutations of DCLRE1C (ARTEMIS) in RS-SCID (MIM.602450)

  • T cell-negative (T-), B cell-negative (B-), natural killer cell-positive (NK+) severe combined immunodeficiency with sensitivity to ionizing radiation (RS-SCID) and Athabaskan-type SCID (SCIDA) are caused by mutation in the gene encoding Artemis (DCLRE1C) (MIM.605988).
  • Another form of T-, B-, NK+ SCID without radiosensitivity (MIM.601457) is caused by mutation in the RAG1 (MIM.179615) or RAG2 (MIM.179616) genes on chromosome 11p13.