Human genes for immunodeficiency 17
Immunodeficiency 17 [DOID:0111973]
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.
Synonyms: immunodeficiency 17, DOID:0111973, IMD17, SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive, immunodeficiency 17, CD3 gamma deficient ...