CD3epsilon deficiency

Summary

DOID:0060017 - CD3epsilon deficiency

Disease Ontology 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.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cd3e

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014278 - immunodeficiency 18

MONDO:0014278 - immunodeficiency 18

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), severe combined immunodeficiency (is_a)