Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (26)
DOID:612 - primary immunodeficiency disease


Disease Ontology Definition:An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.

Synonyms: hypoimmunity, immune deficiency disorder, immunodeficiency syndrome,

Xenbase Genes : c2, gata2, tcf3, prkcd, c4a, stat4, ms4a1, aicda, il10, il6, il12b, cd3g, stat3, rorc, tap2, [+]

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0003778 - inborn error of immunity


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): immune system disease (is_a)