Recent advances in chronic granulomatous disease.
Chronic granulomatous disease
Colitis
EROS
Genetics
Infections
Inflammation
p40phox
Journal
Genes & diseases
ISSN: 2352-3042
Titre abrégé: Genes Dis
Pays: Netherlands
ID NLM: 101635967
Informations de publication
Date de publication:
Mar 2020
Mar 2020
Historique:
received:
10
04
2019
revised:
10
07
2019
accepted:
21
07
2019
entrez:
18
3
2020
pubmed:
18
3
2020
medline:
18
3
2020
Statut:
epublish
Résumé
Chronic granulomatous disease (CGD) is an inherited defect of phagocyte function due to defective NADPH oxidase. Patients with CGD are not able to effectively clear the infections because of the defect in the phagocyte production of oxygen free radicals and are prone to recurrent bacterial and fungal infections. Inflammatory complications are also noted in CGD such as colitis, non-infective granulomas causing gastrointestinal or urinary tract obstruction, hemophagocytic lymphohistiocytosis, and arthritis. Studies on toll-like receptor pathways and neutrophil extracellular traps in CGD have shed light on the role of NADPH oxidase in the innate immunity and pathogenesis of infections in CGD. Some reports also indicate a reduction of memory B cells and defective production of functional antibodies in CGD. Though the exact mechanisms for non-infective inflammatory complications in CGD are not yet clear, studies on efferocytosis and defective autophagy with inflammasome activation have made a substantial contribution to our understanding of the pathogenesis of inflammation in CGD. We also discuss the clinical and molecular features of p40
Identifiants
pubmed: 32181279
doi: 10.1016/j.gendis.2019.07.010
pii: S2352-3042(19)30054-6
pmc: PMC7063432
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
84-92Informations de copyright
© 2019 Chongqing Medical University. Production and hosting by Elsevier B.V.
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