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)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
2523 FUT1 fucosyltransferase 1 (H blood group)
5230 PGK1 phosphoglycerate kinase 1
8809 IL18R1 interleukin 18 receptor 1
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024