combined immunodeficiency due to CD3gamma deficiency
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
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