X-linked severe combined immunodeficiency

Summary

DOID:0060013 - X-linked severe combined immunodeficiency

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: gamma chain deficiency, SCID-X1, thymic epithelial hypoplasia, X-Linked Severe Combined Immunodeficiency, XSCID

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

: il2rg

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010315 - T-B+ severe combined immunodeficiency due to gamma chain deficiency

MONDO:0010315 - T-B+ severe combined immunodeficiency due to gamma chain deficiency

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

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

Parent(s): severe combined immunodeficiency (is_a)