Severe Combined Immunodeficiency, Athabascan Type

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the DCLRE1C gene, encoding protein artemis. It is characterized by severe combined immunodeficiency that is T-cell negative, B-cell negative, NK-cell positive. Sensitivity to ionizing radiation and a high incidence of occurrence amongst the Athabascan Indians are also characteristic of this disease.

**Synonyms:** - ART-SCID - Artemis-Deficient SCID - Artemis-Deficient Severe Combined Immunodeficiency - RS-SCID - Severe Combined Immunodeficiency, Athabaskan Type