Cited by 328Immunodeficiency and Autoimmune DisordersNeutrophil, Myeloperoxidase and Oxidative MechanismsBlood disorders and treatments

Chronic Granulomatous Disease

Holland, Steven M.·2010·Clinical Reviews in Allergy & Immunology

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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Crossref · 10.1007/s12016-009-8136-z

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65 of 65 references verified0 citation errors · 0 not checkable

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  • Most mutations causing chronic granulomatous disease (around 90%) are found in the membrane component NOX2 and the interacting protein p47phox.

    “Most mutations causing the disease (around 90%) are found in the membrane component NOX2 (also known historically as gp91phox) and the interacting protein p47phox.”
  • Genetic defects in the main constituents of NOX2 can trigger an inability of immune system cells to kill invading bacteria and fungi.

    “Genetic defects in the main constituents of NOX2 can trigger an inability of the immune system cells to kill invading bacteria and fungi.”

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Authors
Holland, S. M.
Affiliations
National Institutes of Health (US)
Corresponding author
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
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
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › 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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