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Echinobase
Summary Literature (0)
DOID:0060017 - CD3epsilon deficiency


Disease Ontology Definition:A severe combined immunodeficiency that is an autosomal recessive immunodeficiency that has material basis in 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:

Echinobase Genes :



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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): severe combined immunodeficiency (is_a)