chronic granulomatous disease

Summary
Synonym
  • Bridges-Good syndrome
  • CGD
  • Congenital dysphagocytosis
  • Quie syndrome
Definition
A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver, lymph nodes, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed.
Super Class
phagocyte bactericidal dysfunction
Disease Ontology
DOID:3265
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
1536 CYBB cytochrome b-245 beta chain
3458 IFNG interferon gamma
7100 TLR5 toll like receptor 5
54106 TLR9 toll like receptor 9
Displaying all 4 entries
Gene ID Gene Symbol Description Source
13058 Cybb cytochrome b-245, beta polypeptide
15978 Ifng interferon gamma
53791 Tlr5 toll-like receptor 5
81897 Tlr9 toll-like receptor 9
Displaying 1 entry
Gene ID Gene Symbol Description Source
25712 Ifng interferon gamma
Displaying 1 entry
Gene ID Gene Symbol Description Source
43222 Tl Toll
Displaying 1 entry
Gene ID Gene Symbol Description Source
403139 tlr5b toll-like receptor 5b

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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: December 9, 2024