Category:CD3epsilon deficiency

A severe combined immunodeficiency that is an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex.

equivalent URI:=http://purl.obolibrary.org/obo/DOID_0060017