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X-linked severe combined immunodeficiency
Summary
- Synonym
-
- SCID-X1
- XSCID
- gamma chain deficiency
- thymic epithelial hypoplasia
- 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.
- Super Class
- X-linked recessive disease severe combined immunodeficiency
External Links
- Disease Ontology
- DOID:0060013
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- MGI genotype (from TogoID)
