The DOI matches its Crossref record; 75 of the 76 references it cites were found in a registry or an index.
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]
In the citing paper
“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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BackgroundChronic Granulomatous Disease: Report on a National Registry of 368 Patients
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1 of the 76 references couldn’t be matched to a known paper.
Research works printed but not linked: 1
- Roos D , Holland SM , Kuijpers TW . Chronic granulomatous disease. In: Ochs HD , Smith CIE , Puck JM (eds). Primary Immunodeficiency Diseases, A Molecular and Genetic Approach 3rd ed. New York: Oxford University Press, 2014,689–722.
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Naveed, M., Ibrahim, S., Aziz, T., Khatoon, K., Asad, M., Majeed, M. N., Alasmari, A. F., Alshammari, A., & Alharbi, M. (2025) · Letters in Drug Design & Discovery · doi:10.1016/j.lddd.2026.100325
Nicoletti, S. (2017) · theses.fr (ABES) · doi:10.70675/89efde8dzf329z4c08zad57z08ffd23d7992
Caractérisation des NADPH oxydases et effet de leur inhibition dans les leucémies aigues myéloïdes
Dakik, H. (2017) · theses.fr (ABES) · doi:10.70675/c50123fez19eaz4414zaf63z4c616441a1d3
New inborn errors of human phagocytes
Neehus, A. (2023) · theses.fr (ABES) · doi:10.70675/cb65d83fz5ca3z4c26z84fbz1e758c88e756
Rôle des neutrophiles dans le contrôle des mammites chez l'animal cible et modèle
Rambault, M. (2022) · theses.fr (ABES) · doi:10.70675/e394badezaa07z46b4zb1fezf0f6c1ac3052
Aviello, G., & Knaus, U. G. (2026) · Springer eBooks · doi:10.1007/978-3-032-21135-4_23
谭珊, Liao, Q., Yang, W., & Zhu, Y. (2026) · Frontiers in Medicine · doi:10.3389/fmed.2026.1813957
Euler, M., Hattab, O., Slater, K. B., Golub, B., Selin, R. A., Cheng, Z., Villanueva, Y. A. M., Özkan, G. H., Bila, G., Dutta, K., et al. (2026) · Redox Biology · doi:10.1016/j.redox.2026.104302
“CGD is a primary immunodeficiency, estimated to affect about 1 in 200,000 – 250,000 people worldwide, with substantial clinical impact caused by mutations affecting components of the NOX2 complex, resulting in defective phagocyte-derived ROS production [4,50,51].”
Dörfer, C., Geiken, A., & Graetz, C. (2023) · Elsevier eBooks · doi:10.1016/b978-3-437-23801-7.00015-x
The role of neutrophil responses in invasive candidiasis
Apostolopoulou, A., Nassour, N., & Mansour, M. K. (2026) · Elsevier eBooks · doi:10.1016/b978-0-443-23636-5.00006-x
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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