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Combined immunodeficiency due to CD3gamma deficiency
MONDO:0014276Combined 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, IMD17, SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive, combined immunodeficiency due to CD3gamma deficiency, immunodeficiency 17, immunodeficiency type 17
1 clinical trial for this condition and its sub-types, 0 tagged with Combined immunodeficiency due to CD3gamma deficiency itself.
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