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

J Pediatric Infect Dis Soc. 2018 May 9;7(suppl_1):S2-S5. doi: 10.1093/jpids/piy008.

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.

Publication types

  • Review

MeSH terms

  • Child
  • Female
  • Granulomatous Disease, Chronic* / epidemiology
  • Granulomatous Disease, Chronic* / genetics
  • Granulomatous Disease, Chronic* / physiopathology
  • Humans
  • Male
  • Mutation*
  • NADPH Oxidases / physiology

Substances

  • NADPH Oxidases