NADPH oxidase and its role in superoxide production

Chronic granulomatous disease (CGD) is a disorder that affects phagocyte function in nicotinamide adenine dinucleotide phosphate (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 5 genes that make up the various parts of NADPH oxidase can reduce the phagocytes’ ability to produce ROS. This failure results in CGD, due to the inability of phagocytes to kill certain pathogens.1,2

Diagram showing role of gene mutations that comprise NADPH oxidase in Chronic Granulomatous Disease pathophysiology
Freq NADPH Oxidase System Image Freq NADPH Oxidase System Image Freq NADPH Oxidase System Image

*25 total documented cases.

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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; 1993-2018. 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. Holland SM. Chronic granulomatous disease. Clin Rev Allergy Immunol. 2010;38(1):3-10. 5. Matute JD, Arias AA, Wright NA, et al. A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40phox and selective defects in neutrophil NADPH oxidase activity.  Blood. 2009;114(15):3309-3315. 6. 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.