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Bujnicki Lab Homepage

RS-SCID
(OMIM ID: 602450 )

Known also as: RS-SCID, Severe Combined Immunodeficiency Athabaskan-type, SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION


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. One patient with a similar phenotype was found to have a mutation in the LIG4 gene.


DNA repair proteins related with RS-SCID (602450 ) disease:
Following keywords are related to RS-SCID:

Last modification of this entry: Oct. 11, 2010.

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