The DOI matches its Crossref record; 65 of the 65 references it cites were found in a registry or an index.
Chronic Granulomatous Disease
Abstract
Chronic granulomatous disease (CGD) was first described in the 1950s and has become a paradigm for genetic neutrophil diseases. It is characterized by recurrent infections with a narrow spectrum of bacteria and fungi as well as a common set of inflammatory complications most notably including inflammatory bowel disease. Over the last half century major advances in management have profoundly altered the major clinical issues and the life expectancy of CGD. With X-linked and autosomal recessive forms, it has been an important disease for the development of bone marrow transplantation and gene therapy. Some of the recent developments in infectious syndromes, inflammatory complications, and curative approaches are discussed in this review.
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“Most mutations causing the disease (around 90%) are found in the membrane component NOX2 (also known historically as gp91phox) and the interacting protein p47phox.”
From Sources of Vascular Nitric Oxide and Reactive Oxygen Species and Their Regulation (2019) · cites this paper as [438]
In the citing paper
“Genetic defects in the main constituents of NOX2 can trigger an inability of the immune system cells to kill invading bacteria and fungi.”
From Sources of Vascular Nitric Oxide and Reactive Oxygen Species and Their Regulation (2019) · cites this paper as [438]
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Cites
Chronic Granulomatous Disease: Report on a National Registry of 368 Patients
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Self-citationKilling activity of neutrophils is mediated through activation of proteases by K+ flux
Reeves, E. P., Lu, H., Jacobs, H. L., Messina, C. G. M., Bolsover, S., Gabella, G., Potma, E. O., Warley, A., Roes, J., & Segal, A. W. (2002) · Nature · doi:10.1038/416291a · Cited by 1,153
Genetic, Biochemical, and Clinical Features of Chronic Granulomatous Disease
Segal, B. H., Leto, T. L., Gallin, J. I., Malech, H. L., & Holland, S. M. (2000) · Medicine · doi:10.1097/00005792-200005000-00004 · Cited by 887
Self-citationA Controlled Trial of Interferon Gamma to Prevent Infection in Chronic Granulomatous Disease
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NADPH oxidase–derived free radicals are key oxidants in alcohol-induced liver disease
Kono, H., Rusyn, I., Yin, M., Gäbele, E., Yamashina, S., Dikalova, A., Kadiiska, M. B., Connor, H. D., Mason, R. P., Segal, B. H., et al. (2000) · Journal of Clinical Investigation · doi:10.1172/jci9020 · Cited by 493
Self-citationp47phox is required for atherosclerotic lesion progression in ApoE–/– mice
Barry-Lane, P. A., Patterson, C., van der Merwe, M., Hu, Z., Holland, S. M., Yeh, E. T. H., & Runge, M. S. (2001) · Journal of Clinical Investigation · doi:10.1172/jci200111927 · Cited by 489
Self-citationGastrointestinal Involvement in Chronic Granulomatous Disease
Marciano, B. E., Rosenzweig, S. D., Kleiner, D. E., Anderson, V., Darnell, D. N., Anaya‐O’Brien, S., Hilligoss, D. M., Malech, H. L., Gallin, J. I., & Holland, S. M. (2004) · PEDIATRICS · doi:10.1542/peds.114.2.462 · Cited by 417
Self-citationLocalizing NADPH Oxidase–Derived ROS
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Itraconazole to Prevent Fungal Infections in Chronic Granulomatous Disease
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Self-citationMorgenstern, D. E., Gifford, M. A. C., Li, L. L., Doerschuk, C. M., & Dinauer, M. C. (1997) · The Journal of Experimental Medicine · doi:10.1084/jem.185.2.207 · Cited by 370
Research works printed but not linked: 1
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Items 301–326 of 326
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Sarcoidosis in childhood. A rare systemic disease
Zamora-Chávez, A., Sadowinski‐Pine, S., Serrano-Bello, C. A., Velázquez-Jones, L., Saucedo-Ramírez, O. J., Palafox-Flores, J., & Mata-Vázquez, E. J. (2016) · Boletín Médico Del Hospital Infantil de México (English Edition) · doi:10.1016/s2444-3409(16)30008-5
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Self-citationTwo Chronic Granulomatous Disease Diagnosed in Adult Age
Akyıl, F. T., Sevim, T., Barış, S., Aksoy, E., Tokyay, D. A., Bodur, Y., & Aktaş, O. (2016) · Turkish Thoracic Journal · doi:10.5578/ttj.30515
Systemic Disease Affecting the Stomach
Protheroe, S. (2017) · Springer eBooks · doi:10.1007/978-3-642-11202-7_126
Хронічна гранулематозна хвороба: діагностика та ведення хворих на сучасному етапі
Клименко, В. А., Піонтковська, О. В., Lupaltseva, O. S., Khalturina, T. O., Savvo, О. М., Тимохина, Н. И., & Soboleva, G. M. (2018) · CHILD`S HEALTH · doi:10.22141/2224-0551.13.1.2018.127074
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Efeito de Nanopartículas de Prata em Neutrófilos Humanos
Soares, T. (2014) · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) · doi:10.34626/39va-x791
Buescher, E. S. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4377-2702-9.00108-2
A case of chronic granulomatous disease diagnosed in adulthood
ŞAHİN, M., Sayıner, H. S., & Vural, H. (2021) · Journal of Surgery and Medicine · doi:10.28982/josam.740047
Firm swelling of the lips and aphthouslike oral ulcers associated with new-onset allergies
Bunting, M. E., Hawie, J. B., Lancaster, D. D., & Johnson, T. M. (2021) · The Journal of the American Dental Association · doi:10.1016/j.adaj.2021.01.015
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Aguilar, C., & Frange, P. (2022) · Elsevier eBooks · doi:10.1016/b978-2-294-77580-2.00039-6
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Haouassia, F. E., Chaanoun, K., Zaghba, N., Benjelloun, H., & Yassine, N. (2024) · Jurnal Profesi Medika Jurnal Kedokteran dan Kesehatan · doi:10.33533/jpm.v18i1.7554
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Disorders of Phagocytic Function
Merz, L. E., & Berliner, N. (2026) · Springer eBooks · doi:10.1007/978-3-032-13858-3_51
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Receptor Cross-talk and Neutrophil Function
Önnheim, K. (2013)
Metadata
- Authors
- Holland, S. M.
- Affiliations
- National Institutes of Health (US)
- Corresponding author
- Holland, Steven M.
- ORCID
- Holland, Steven M.
- Venue
- Clinical Reviews in Allergy & Immunology
- Published
- 2009-06-09
- Volume
- 38
- Issue
- 1
- Pages
- 3-10
- ISSN
- 1080-0549 (ISSN-L)
- 1559-0267
- OpenAlex
- W2052012325
- Cited by
- 328
- References
- 65
- Citations by year
- 2026: 5 · 2025: 10 · 2024: 10 · 2023: 7 · 2022: 8 · 2021: 20 · 2020: 12 · 2019: 16 · 2018: 15 · 2017: 19 · 2016: 21 · 2015: 19 · 2014: 29 · 2013: 43 · 2012: 27
- FWCI
- 2.35
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Clinical Reviews in Allergy & Immunology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- NHLBI Division of Intramural Research
- 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, neutrophil dysfunction, inflammatory bowel disease, X-linked CGD, autosomal recessive CGD, bone marrow transplantation, gene therapy, inflammatory complications, life expectancy
- MeSH terms
- Animals, Anti-Bacterial Agents, Antifungal Agents, Granulomatous Disease, Chronic, Humans, Interferon-gamma, Genetic Therapy, Bone Marrow Transplantation, NADPH Oxidases, Mice
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