DISEASES

Disease-gene associations mined from literature

Human genes for severe combined immunodeficiency with sensitivity to ionizing radiation

Severe combined immunodeficiency with sensitivity to ionizing radiation [DOID:0090012]

A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13.

Synonyms:  severe combined immunodeficiency with sensitivity to ionizing radiation,  DOID:0090012,  severe combined immunodeficiency with sensitivity to ionizing radiations,  artemis deficiency,  SCID, Athabascan type ...