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]
Citations
Cites
Chronic Granulomatous Disease: Report on a National Registry of 368 Patients
Winkelstein, J. A., Marino, M. C., Johnston, R. B., Boyle, J., Curnutte, J., Gallin, J. I., Malech, H. L., Holland, S. M., Ochs, H., Quie, P., et al. (2000) · Medicine · doi:10.1097/00005792-200005000-00003 · Cited by 1,728
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
The International Chronic Granulomatous Disease Cooperative Study Group* (1991) · New England Journal of Medicine · doi:10.1056/nejm199102213240801 · Cited by 832
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
Ushio‐Fukai, M. (2006) · Science s STKE · doi:10.1126/stke.3492006re8 · Cited by 397
Itraconazole to Prevent Fungal Infections in Chronic Granulomatous Disease
Gallin, J. I., Alling, D. W., Malech, H. L., WESLEY, R. A., Koziol, D. E., Marciano, B. E., Eisenstein, E. M., Turner, M. L. C., DeCarlo, E. S., Starling, J. M., et al. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa021931 · Cited by 394
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
- Janeway CA, Craig J, Davidson M, Downey W, Gitlin D, Sullivan JC (1954) Hypergammaglobulinemia associated with severe, recurrent and chronic non-specific infection. Am J Dis Child 88:388–392
Cited by
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Free radicals, antioxidants, and human disease: curiosity, cause, or consequence?
Halliwell, B. B. (1994) · The Lancet · doi:10.1016/s0140-6736(94)92211-x · Cited by 2,926
Neutrophils, from Marrow to Microbes
Borregaard, N. (2010) · Immunity · doi:10.1016/j.immuni.2010.11.011 · Cited by 1,679
Huang, Z., Rose, A. H., & Hoffmann, P. R. (2011) · Antioxidants and Redox Signaling · doi:10.1089/ars.2011.4145 · Cited by 946
Combating oxidative stress in vascular disease: NADPH oxidases as therapeutic targets
Drummond, G. R., Selemidis, S., Griendling, K. K., & Sobey, C. G. (2011) · Nature Reviews Drug Discovery · doi:10.1038/nrd3403 · Cited by 899
Vitamin C: The known and the unknown and Goldilocks
Padayatty, S., & Levine, M. (2016) · Oral Diseases · doi:10.1111/odi.12446 · Cited by 753
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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