Human genes for CD3epsilon deficiency
CD3epsilon deficiency [DOID:0060017]
A severe combined immunodeficiency that has_material_basis_in autosomal recessive 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.
Synonyms: CD3epsilon deficiency, DOID:0060017