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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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Novel NCF2 Mutation Causing Chronic Granulomatous Disease
Lachover‐Roth, I., Salamon, P., Freund, T., Gadot, Y. B.-D., Baron, S., Hershkovitz, T., Shefler, I., Hanna, S., Confino‐Cohen, R., Bentur, L., et al. (2020) · Journal of Clinical Immunology · doi:10.1007/s10875-020-00820-8 · Cited by 17
Rai, S., Gupta, T. P., Shaki, O., & Kale, A. (2021) · The International Journal of Lower Extremity Wounds · doi:10.1177/15347346211032555 · Cited by 17
“The absence of reduced H2O2 availability leads to persistence of inflammation and suggests that H2O2 plays an essential role in inflammation regulation.(39,40)”
Wei, A., Ma, H., Zhang, L., Li, Z., Zhang, Q., Wang, D., Zhang, L., Lian, H., Zhang, R., & Wang, T. (2020) · BMC Pediatrics · doi:10.1186/s12887-020-1996-3 · Cited by 16
Paecilomyces formosus Infection in an Adult Patient with Undiagnosed Chronic Granulomatous Disease
Heshmatnia, J., Marjani, M., Mahdaviani, S. A., Adimi, P., Pourabdollah, M., Tabarsi, P., Mahdavi, F., Jamaati, H., Adcock, I. M., Garssen, J., et al. (2017) · Journal of Clinical Immunology · doi:10.1007/s10875-017-0395-5 · Cited by 15
Major CD4 T-Cell Depletion and Immune Senescence in a Patient with Chronic Granulomatous Disease
Albuquerque, A. S., Fernandes, S. M., Rego, R. T., Cheynier, R., Lucas, M. B., Silva, S. L., Victorino, R. M. M., & Sousa, A. E. (2017) · Frontiers in Immunology · doi:10.3389/fimmu.2017.00543 · Cited by 14
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A founder effect for p47phox Trp193Ter chronic granulomatous disease in Kavkazi Jews
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Self-citationChallenging Mimickers in the Diagnosis of Sarcoidosis: A Case Study
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Chronic Granulomatous Disease First Diagnosed in Adulthood Presenting With Spinal Cord Infection
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Self-citationDe novo DUOX2 expression in neutrophil subsets shapes the pathogenesis of intestinal disease
Singh, A. K., Ainciburu, M., Wynne, K. J., Bhat, S. A., Blanco, A., Tzani, I., Akiba, Y., Lalor, S. J., Kaunitz, J. D., Bourke, B., et al. (2025) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2421747122 · Cited by 12
Chronic Granulomatous Disease in children: a single center experience
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“Interestingly, patients with X-linked chronic granulomatous disease (CGD) (gp91phox deficiency) share biological properties such as low p65 phosphorylation, defective ROS production, and high inflammasome activity with our p.R157X cases [36].”
InfluentialRegulation of Derlin-1-mediated degradation of NADPH oxidase partner p22 by thiol modification
Miyano, K., Okamoto, S., Kajikawa, M., Kiyohara, T., Kawai, C., 山内, 明., & Kuribayashi, F. (2022) · Redox Biology · doi:10.1016/j.redox.2022.102479 · Cited by 9
“Genetic defects in Nox2 (encoded by the X-linked CYBB gene) lead to chronic granulomatous disease (CGD), which is characterized by recurrent life-threatening bacterial and fungal infections [9].”
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Chronic granulomatous disease caused by maternal uniparental isodisomy of chromosome 16
García‐Morato, M. B., Nevado, J. B., González‐Granado, L. I., Urgellés, A. S., Pena, R. R., & Cerdán, A. F. (2017) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2017.01.018 · Cited by 9
Evolution towards Virulence in a Burkholderia Two-Component System
Schaefers, M. M., Wang, B. X., Boisvert, N. M., Martini, S. J., Bonney, S. L., Marshall, C. W., Laub, M. T., Cooper, V. S., & Priebe, G. P. (2021) · mBio · doi:10.1128/mbio.01823-21 · Cited by 8
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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