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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 21 - 30 of 67 in total
Gene ID Gene Symbol Description Source
2821 GPI glucose-6-phosphate isomerase
3383 ICAM1 intercellular adhesion molecule 1
3417 IDH1 isocitrate dehydrogenase (NADP(+)) 1
3572 IL6ST interleukin 6 cytokine family signal transducer
3824 KLRD1 killer cell lectin like receptor D1
3956 LGALS1 galectin 1
3958 LGALS3 galectin 3
4153 MBL2 mannose binding lectin 2
4594 MMUT methylmalonyl-CoA mutase
4860 PNP purine nucleoside phosphorylase
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