primary immunodeficiency disease

Summary
Synonym
  • hypoimmunity
  • immune deficiency disorder
  • immunodeficiency syndrome
Definition
An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.
Super Class
immune system disease
Disease Ontology
DOID:612
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 35 in total
Gene ID Gene Symbol Description Source
925 CD8A CD8 subunit alpha
1493 CTLA4 cytotoxic T-lymphocyte associated protein 4
3454 IFNAR1 interferon alpha and beta receptor subunit 1
3558 IL2 interleukin 2
3572 IL6ST interleukin 6 cytokine family signal transducer
3575 IL7R interleukin 7 receptor
3604 TNFRSF9 TNF receptor superfamily member 9
3978 LIG1 DNA ligase 1
4615 MYD88 MYD88 innate immune signal transduction adaptor
4938 OAS1 2'-5'-oligoadenylate synthetase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
67075 Magt1 magnesium transporter 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
43222 Tl Toll

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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: February 17, 2025