The NADPH oxidase and chronic granulomatous disease

Mol Med Today. 1996 Mar;2(3):129-35. doi: 10.1016/1357-4310(96)88723-5.


Chronic granulomatous disease (CGD) is characterized by severe, protracted and often fatal infection, which results from a failure of the NADPH oxidase enzyme system in the patient's phagocytes to produce superoxide. The NADPH oxidase enzyme system is composed of a number of interacting components, the absence of any one of which causes failure of the system as a whole. Investigation of individuals with CGD has led to the identification of the different protein components and the genes coding for them. CGD is particularly well suited to treatment by gene therapy and is likely to be one of the earliest monogenic conditions to be successfully treated in this way.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Electron Transport
  • Genetic Therapy
  • Granulomatous Disease, Chronic / diagnosis
  • Granulomatous Disease, Chronic / enzymology*
  • Granulomatous Disease, Chronic / genetics
  • Granulomatous Disease, Chronic / therapy
  • Humans
  • NADH, NADPH Oxidoreductases / genetics
  • NADH, NADPH Oxidoreductases / metabolism*
  • NADPH Oxidases
  • Phagocytes / metabolism
  • Respiratory Burst
  • Superoxides / metabolism


  • Superoxides
  • NADH, NADPH Oxidoreductases
  • NADPH Oxidases