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Disease Ontology Browser
X-linked severe combined immunodeficiency (DOID:0060013)
Alliance: disease page
Synonyms: gamma chain deficiency; SCID-X1; thymic epithelial hypoplasia; XSCID
Alt IDs: OMIM:300400, DOID:5811, MESH:D053632, NCI:C4682, UMLS_CUI:C1279481
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory