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severe combined immunodeficiency with radiation sensitivity (RS-SCID)

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; 605988). 
T-, B- SCID patients showed increased radiosensitivity.
Athabaskan-type SCID (SCIDA) is the T-, B- SCID from the Navajo and Jicarilla Apache Indians of the U.S. Southwest. All patients presented within the first months of life with oral thrush, diarrhea, fever, pneumonia, and/or failure to thrive. All had lymphopenia and hypogammaglobulinemia, and most had absent tonsils and lymph nodes. No skeletal abnormalities were detected on radiographic examination, and 3 patients tested had normal adenosine deaminase (608958) and purine nucleoside phosphorylase (164050) activity.

OTHER NAME(S): severe combined immunodeficiency with sensitivity to ionizing radiation
SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION

ABREVIATION(S):
RS-SCID

TYPE: sensitivity to radiation, immunodeficiency

Related patway(s): non-homologous end-joining (NHEJ)

DNAtraffic protein(s) related to disease: DCLRE1C (Artemis)

OMIM: 602450

Last modification date: Feb. 4, 2012