Term Name: | X-linked severe combined immunodeficiency |
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Synonyms: | gamma chain deficiency, SCID-X1, thymic epithelial hypoplasia, XSCID |
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. |
Ontology: | Human Disease [DOID:0060013] ( DOID:0060013 ) |