Term Name: | CD3epsilon deficiency |
---|---|
Synonyms: | |
Definition: | 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. |
Ontology: | Human Disease [DOID:0060017] ( DOID:0060017 ) |