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

Echinobase 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

MIM:

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

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

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), X-linked recessive disease (is_a)