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CD3epsilon deficiency

Go to external page http://purl.obolibrary.org/obo/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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

CD3epsilon deficiency

has obo namespace

disease_ontology

id

DOID:0060017