Search Ontology:
Human Disease
X-linked severe combined immunodeficiency
- Term ID
- DOID:0060013
- Synonyms
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- 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. (2)
- References
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- GARD:5618
- MESH:D053632
- MIM:300400
- NCI:C4682
- SNOMEDCT_US_2023_03_01:203592006
- UMLS_CUI:C1279481
- Ontology
- Human Disease ( DOID:0060013 )
- is a type of
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Genes Involved
Zebrafish Models