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 41 - 50 of 67 in total
Gene ID Gene Symbol Description Source
5728 PTEN phosphatase and tensin homolog
5742 PTGS1 prostaglandin-endoperoxide synthase 1
5743 PTGS2 prostaglandin-endoperoxide synthase 2
6382 SDC1 syndecan 1
6480 ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1
6489 ST8SIA1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1
6646 SOAT1 sterol O-acyltransferase 1
7099 TLR4 toll like receptor 4
7374 UNG uracil DNA glycosylase
8547 FCN3 ficolin 3
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

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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