RS-SCID
MIM.602450
severe combined immunodeficiency with sensitivity to ionizing radiation (RS-SCID), Athabaskan-type SCID (SCIDA)
Pathology
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.