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 11 - 20 of 27 in total
Gene ID Gene Symbol Description Source
4241 MELTF melanotransferrin
4684 NCAM1 neural cell adhesion molecule 1
4860 PNP purine nucleoside phosphorylase
4907 NT5E 5'-nucleotidase ecto
5238 PGM3 phosphoglucomutase 3
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
5552 SRGN serglycin

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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