| Metadata | |
|---|---|
| ID | DOID:0060013 |
| Name | X-linked severe combined immunodeficiency |
| 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. http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency, https://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency#synonyms |
| Xrefs |
SNOMEDCT_US_2023_03_01:203592006 |
| Alternateids |
DOID:5811 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
gamma chain deficiency [EXACT] SCID-X1 [EXACT] thymic epithelial hypoplasia [EXACT] XSCID [EXACT] |
| Parent Relationships |