Echinobase will be undergoing a hardware update June 14 and 15, 2023 and therefore will be unavailable those days.

We apologize for the inconvenience.

Click on this message to dismiss it.
Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
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.


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)