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Review
. 2018 May 9;7(suppl_1):S2-S5.
doi: 10.1093/jpids/piy008.

Chronic Granulomatous Disease: Epidemiology, Pathophysiology, and Genetic Basis of Disease

N L Rider  1 , M B Jameson  2 , C B Creech  2
Affiliations
Review

Chronic Granulomatous Disease: Epidemiology, Pathophysiology, and Genetic Basis of Disease

N L Rider et al. J Pediatric Infect Dis Soc. .

Abstract

Chronic Granulomatous Disease is one of the classic primary immunodeficiencies of childhood. While the incidence and severity of bacterial and fungal infections have been greatly reduced in this patient population, much remains to be learned about the pathophysiology of the disease, particularly for autoinflammatory manifestations. In this review, we examine the epidemiology, pathophysiology, and genetic basis for CGD.

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Figures

Figure 1.
Figure 1.
Nicotinamide adenine dinucleotide phosphate (NADPH) oxidase system. Ninety percent of patients with chronic granulomatous disease carry mutations in either CYBB (gp91phox) or NCF1 (p47phox). Mutations in either the membrane or cytosolic domain lead to a disruption of respiratory burst in phagocytes.
See this image and copyright information in PMC

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