immunodeficiency 17 (DOID:0111973)
Alliance: disease page
Synonyms: CD3-gamma deficiency; IMD17; immunodeficiency 17, CD3 gamma deficient; SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive
Alt IDs: OMIM:615607, UMLS_CUI:C3810107
Definition: A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3.