Nicotinamide adenine dinucleotide phosphate (NADPH) oxidase and its role in superoxide production

CGD is a disorder that affects neutrophil function in NADPH oxidase, which is made up of multiple subunits and produces reactive oxygen species (ROS) used to kill pathogens.1,2

Mutations in any one of the 6 genes that make up the various parts of NADPH oxidase can reduce the neutrophils’ ability to produce ROS. This failure results in CGD, due to the inability of neutrophils to kill certain bacteria and fungi.1,2

Diagram explaining the role of NADPH oxidase in superoxide production and how mutations in NADPH oxidase genes can lead to Chronic Granulomatous Disease (CGD), affecting neutrophil function

Frequency of NADPH oxidase system gene mutations
Freq NADPH Oxidase System Image Freq NADPH Oxidase System Image Freq NADPH Oxidase System Image

*Highly skewed X-inactivation from an inherited CYBB variant, highly skewed X-inactivation from a de novo mutation, and somatic mosaicism for a CYBB pathogenic variant.

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1. Leiding JW, Holland SM. Chronic granulomatous disease. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews®. Seattle, WA: University of Washington, Seattle; 1993-2022. 2. Rider NL, Jameson MB, Creech CB. Chronic granulomatous disease: epidemiology, pathophysiology, and genetic basis of disease. J Pediatric Infect Dis Soc. 2018;7(suppl 1):S2-S5. 3. Kuhns DB, Alvord WG, Heller T, et al. Residual NADPH oxidase and survival in chronic granulomatous disease. N Engl J Med. 2010;363(27):2600-2610. 4. Thomsen IP, Smith MA, Holland SM, Creech CB. A comprehensive approach to the management of children and adults with chronic granulomatous disease. J Allergy Clin Immunol Pract. 2016;4(6):1082-1088. 5. van de Geer A, Nieto-Patlán A, Kuhns DB, et al. Inherited p40phox deficiency differs from classic chronic granulomatous disease. J Clin Invest. 2018;128(9):3957-3975. 6. Dinauer MC. Inflammatory consequences of inherited disorders affecting neutrophil function. Blood. 2019;133(20):2130-2139.