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Summary Literature (0)
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: SCID-X1, X-Linked Severe Combined Immunodeficiency, XSCID, gamma chain deficiency, thymic epithelial hypoplasia

Xenbase Genes : il2rg

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010315 - T-B+ severe combined immunodeficiency due to gamma chain deficiency

OMIM:
OMIM: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
Parent(s): severe combined immunodeficiency (is_a)