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Chronic granulomatous disease
Open accessAbstract
INTRODUCTION: Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by recurrent, life-threatening bacterial and fungal infections of the skin, the airways, the lymph nodes, the liver, the brain and the bones. Frequently found pathogens are Staphylococcus aureus, Aspergillus species, Klebsiella species, Burkholderia cepacia, Serratia marcescens and Salmonella species. SOURCES OF DATA: CGD is a rare (∼1:250 000 individuals) disease caused by mutations in any one of the five components of the NADPH oxidase in phagocytic leucocytes. This enzyme generates superoxide and is essential for intracellular killing of pathogens by phagocytes. AREAS OF AGREEMENT: CGD patients suffer not only from life-threatening infections, but also from excessive inflammatory reactions. AREAS OF CONTROVERSY: Neither the cause of these inflammatory reactions nor the way to treat them is clear. AREAS TIMELY FOR DEVELOPING RESEARCH: Patient selection for and timing of bone marrow transplantation along with gene therapy.
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“Individuals with CGD have persistent bacterial and fungal infections due to defects in NOx [94].”
From The Role of Reactive Species on Innate Immunity (2022) · cites this paper as [94]
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“NADPH oxidase NOx, as an •O2− producer is essential for microbial destruction, and patients lacking this functional oxidase are more susceptible to microbial infections.”
From The Role of Reactive Species on Innate Immunity (2022) · cites this paper as [94]
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Metadata
- Authors
- Roos, D.
- Affiliations
- Amsterdam UMC Location University of Amsterdam (NL)
- Corresponding author
- Roos, Dirk
- ORCID
- Roos, Dirk
- Venue
- British Medical Bulletin
- Publisher
- Oxford University Press (OUP)
- Published
- 2016-03-16
- Volume
- 118
- Issue
- 1
- Pages
- 50-63
- ISSN
- 0007-1420 (ISSN-L)
- 1471-8391
- PMC
- PMC5127417
- OpenAlex
- W2305820599
- Cited by
- 212
- References
- 76
- Citations by year
- 2026: 9 · 2025: 17 · 2024: 16 · 2023: 20 · 2022: 19 · 2021: 30 · 2020: 25 · 2019: 30 · 2018: 21 · 2017: 18 · 2016: 4
- FWCI
- 2.34
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- British Medical Bulletin (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- HighWire Press Open Archive (submittedVersion)
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Life Sciences › Immunology and Microbiology › Immunology › Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Health Sciences › Medicine › Hematology › Blood disorders and treatments
- Keywords
- chronic granulomatous disease, primary immunodeficiency, NADPH oxidase, superoxide, phagocytes, bacterial and fungal infections, Staphylococcus aureus, Aspergillus, Burkholderia cepacia, Klebsiella, Serratia marcescens, Salmonella, inflammation, bone marrow transplantation, gene therapy
- MeSH terms
- Bacterial Infections, Granulomatous Disease, Chronic, Humans, Mutation, Mycoses, Phagocytes, Genetic Therapy, Bone Marrow Transplantation, NADPH Oxidases, Genetic Predisposition to Disease, Molecular Diagnostic Techniques
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