Human genes for CD3gamma deficiency
CD3gamma deficiency [DOID:0060018]
A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected.
Synonyms: CD3gamma deficiency, DOID:0060018