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Standards Ontologies Notations
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
External Links
Disease Ontology
DOID:612
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 20 of 67 in total
Gene ID Gene Symbol Description Source
1048 CEACAM5 CEA cell adhesion molecule 5
1312 COMT catechol-O-methyltransferase
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
1738 DLD dihydrolipoamide dehydrogenase
2194 FASN fatty acid synthase
2220 FCN2 ficolin 2
2539 G6PD glucose-6-phosphate dehydrogenase
2548 GAA alpha glucosidase
2719 GPC3 glypican 3
2720 GLB1 galactosidase beta 1
Displaying all 5 entries
Gene ID Gene Symbol Description Source
16195 Il6st interleukin 6 signal transducer
21897 Tlr1 toll-like receptor 1
21898 Tlr4 toll-like receptor 4
21899 Tlr6 toll-like receptor 6
24088 Tlr2 toll-like receptor 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
29260 Tlr4 toll-like receptor 4
192281 Oas1a 2'-5' oligoadenylate synthetase 1A
Displaying all 2 entries
Gene ID Gene Symbol Description Source
34137 Ostgamma Oligosaccharide transferase gamma subunit
43222 Tl Toll
Displaying 1 entry
Gene ID Gene Symbol Description Source
854252 OST3 dolichyl-diphosphooligosaccharide--protein glycotransferase OST3
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