Combined immunodeficiency due to CD3gamma deficiency
Combined immunodeficiency due to CD3gamma deficiency
Definition
Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.
Also known as CD3 deficiency, CD3-gamma deficiency, CD3gamma deficiency, combined immunodeficiency due to CD3gamma deficiency, IMD17, immunodeficiency 17, immunodeficiency type 17, SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive — per MONDO