Summary Literature (0)

DOID:0060013 - gamma chain deficiency

Disease Ontology Definition:A severe combined immunodeficiency that is a X-linked SCID that has material basis in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.

Synonyms: SCID-X1, X-Linked Severe Combined Immunodeficiency, XSCID, thymic epithelial hypoplasia,

Echinobase Genes :


OMIM:

MIM:300400 - severe combined immunodeficiency, x-linked; scidx1

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

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