Category:Gamma chain deficiency

A severe combined immunodeficiency that is a X-linked SCID caused by 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. OMIM mapping confirmed by DO. [LS]. equivalent URI:=http://purl.obolibrary.org/obo/DOID_0060013