combined immunodeficiency due to CD3gamma deficiency
CD3 deficiency
exact
CD3-gamma deficiency
exact
CD3gamma deficiency
exact
IMD17
exact
SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive
exact
combined immunodeficiency due to CD3gamma deficiency
exact
immunodeficiency 17
exact
immunodeficiency type 17
exact
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.
MONDO:0015974
severe combined immunodeficiency
excluded_subClassOf
MONDO:0018814
non-SCID combined immunodeficiency
excluded_subClassOf
MONDO:0015131
combined immunodeficiency
is_a