severe combined immunodeficiency

Summary
Synonym
  • SCID
  • combined T and B cell inborn immunodeficiency
Definition
A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems.
Super Class
combined immunodeficiency
External Links
Disease Ontology
DOID:627
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
Related Genes
Displaying entries 21 - 27 of 27 in total
Gene ID Gene Symbol Description Source
5728 PTEN phosphatase and tensin homolog
5743 PTGS2 prostaglandin-endoperoxide synthase 2
6646 SOAT1 sterol O-acyltransferase 1
8050 PDHX pyruvate dehydrogenase complex component X
8809 IL18R1 interleukin 18 receptor 1
10855 HPSE heparanase
23600 AMACR alpha-methylacyl-CoA racemase

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Acknowledgements

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


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Last updated: August 19, 2024