Category:CD3gamma deficiency

A severe combined immunodeficiency an autosomal recessive immunodeficiency caused by 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.

equivalent URI:=http://purl.obolibrary.org/obo/DOID_0060018