Genetic disorders coupled to ROS deficiency
Open accessAbstract
Maintaining the redox balance between generation and elimination of reactive oxygen species (ROS) is critical for health. Disturbances such as continuously elevated ROS levels will result in oxidative stress and development of disease, but likewise, insufficient ROS production will be detrimental to health. Reduced or even complete loss of ROS generation originates mainly from inactivating variants in genes encoding for NADPH oxidase complexes. In particular, deficiency in phagocyte Nox2 oxidase function due to genetic variants (CYBB, CYBA, NCF1, NCF2, NCF4) has been recognized as a direct cause of chronic granulomatous disease (CGD), an inherited immune disorder. More recently, additional diseases have been linked to functionally altered variants in genes encoding for other NADPH oxidases, such as for DUOX2/DUOXA2 in congenital hypothyroidism, or for the Nox2 complex, NOX1 and DUOX2 as risk factors for inflammatory bowel disease. A comprehensive overview of novel developments in terms of Nox/Duox-deficiency disorders is presented, combined with insights gained from structure-function studies that will aid in predicting functional defects of clinical variants.
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O2•− is essential for elimination of pathogens by phagocytic cells, as seen in patients with chronic granulomatous disease (CGD), an inherited NADPH oxidase disorder characterised by recurrent and severe bacterial and fungal infections.
“O2•− is essential for the elimination of pathogens by phagocytic cells, as seen in patients suffering from chronic granulomatous disease CGD, an inherited NADPH oxidase disorder characterised by recurrent and severe bacterial and fungal infections [170].”
From Superoxide Anion Chemistry—Its Role at the Core of the Innate Immunity (2023) · cites this paper as [170]
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References 257 · Cited by 164
- Authors
- O’Neill, S., Brault, J., Stasia, M.-J., & Knaus, U. G.
- Affiliations
- University College Dublin (IE)
- Centre Hospitalier Universitaire de Grenoble (FR)
- Corresponding author
- Knaus, Ulla G.
- Venue
- Redox Biology
- Publisher
- Elsevier BV
- Published
- 2015-12
- Volume
- 6
- Pages
- 135-156
- ISSN
- 2213-2317 (ISSN-L)
- PMC
- PMC4550764
- OpenAlex
- W1600180689
- Cited by
- 164
- References
- 257
- Citations by year
- 2026: 11 · 2025: 10 · 2024: 14 · 2023: 17 · 2022: 17 · 2021: 10 · 2020: 16 · 2019: 21 · 2018: 19 · 2017: 17 · 2016: 9 · 2015: 2 · 2014: 1
- FWCI
- 1.48
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Redox Biology (publishedVersion, cc-by-nc-nd)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Funders
- Science Foundation Ireland (U.G.K.)
- University Joseph Fourier, Faculty of Medicine, the Regional Clinical Research Department, DRCI, Grenoble University Hospital
- CGD Research Trust (J4G/09/09)
- National Institutes of Health (N01-AI-30070)
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Redox biology and oxidative stress
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Keywords
- NADPH oxidase, chronic granulomatous disease, CYBB, CYBA, NCF1, NCF2, NCF4, DUOX2, DUOXA2, congenital hypothyroidism, NOX1, inflammatory bowel disease, redox homeostasis, oxidative stress, structure-function analysis, genetic variants
- MeSH terms
- Dual Oxidases, NADPH Oxidase 1, NADPH Oxidase 2, Cardiovascular Diseases, Diabetes Mellitus, Granulomatous Disease, Chronic, Humans, Hypothyroidism, Membrane Glycoproteins, Membrane Proteins, Mutation, Oxidation-Reduction, Inflammatory Bowel Diseases, Gene Expression, Reactive Oxygen Species, NADPH Oxidases
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