/combined immunodeficiency due to CD3gamma deficiency

combined immunodeficiency due to CD3gamma deficiency

Rare Disease

MONDO:0014276

Also Known As

CD3 deficiencyCD3-gamma deficiencyCD3gamma deficiencyIMD17SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positivecombined immunodeficiency due to CD3gamma deficiencyimmunodeficiency 17immunodeficiency 17, CD3 gamma deficientimmunodeficiency type 17

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.