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severe combined immunodeficiency, Athabaskan type (SCIDA)

Defects in DCLRE1C are the cause of severe combined immunodeficiency Athabaskan type (SCIDA). SCIDA is a variety of RS-SCID caused by a founder mutation in Athabascan-speaking native Americans, being inherited as an autosomal recessive trait with an estimated gene frequency of 2.1% in the Navajo population. Affected individuals exhibit clinical symptoms and defects in DNA repair comparable to those seen in RS-SCID.

OTHER NAME(S): severe combined immunodeficiency
Athabaskan type SCID
severe combined immunodeficiency, Athabascan type


TYPE: immunodeficiency

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

DNAtraffic protein(s) related to disease: DCLRE1C (Artemis), LIG4

OMIM: 602450

Last modification date: Feb. 4, 2012