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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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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