label: Severe Combined Immunodeficiency, Athabascan Type
label_lc: severe combined immunodeficiency, athabascan type
description: 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.