About   Help   FAQ
Disease Ontology Browser
gamma chain deficiency (DOID:0060013)
Synonyms: SCID-X1; thymic epithelial hypoplasia; X-Linked Severe Combined Immunodeficiency; 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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/18/2017
MGI 6.08
The Jackson Laboratory