Chronic Granulomatous Disease

Methods Mol Biol. 2019:1982:531-542. doi: 10.1007/978-1-4939-9424-3_32.


Chronic granulomatous disease is a clinical condition that stems from inactivating mutations in NOX2 and its auxiliary proteins. Together, these proteins form the phagocyte NADPH oxidase enzyme that generates superoxide. Superoxide (O2ċ-) and its reduced product hydrogen peroxide (H2O2) give rise to several additional reactive oxygen species (ROS), which together are necessary for adequate killing of pathogens. Thus, CGD patients, with a phagocyte NADPH oxidase that is not properly functioning, suffer from recurrent, life-threatening infections with certain bacteria, fungi, and yeasts. Here, I give a short survey of the genetic mutations that underlie CGD, the effect of these mutations on the activity of the leukocyte NADPH oxidase, the clinical symptoms of CGD patients, and the treatment options for these patients.

Keywords: CYBA; CYBB; Chronic granulomatous disease; Mutations; NADPH oxidase; NCF1; NCF2; NCF4; NOX2; Phagocytes.

Publication types

  • Review

MeSH terms

  • Biomarkers
  • Combined Modality Therapy
  • Disease Management
  • Enzyme Activation
  • Granulomatous Disease, Chronic / diagnosis
  • Granulomatous Disease, Chronic / etiology*
  • Granulomatous Disease, Chronic / metabolism*
  • Granulomatous Disease, Chronic / therapy
  • Humans
  • Hydrogen Peroxide / metabolism
  • Mutation
  • NADPH Oxidases / chemistry
  • NADPH Oxidases / genetics
  • NADPH Oxidases / metabolism
  • Phagocytes / immunology
  • Phagocytes / metabolism
  • Phenotype
  • Protein Binding
  • Reactive Oxygen Species / metabolism
  • Symptom Assessment
  • Treatment Outcome


  • Biomarkers
  • Reactive Oxygen Species
  • Hydrogen Peroxide
  • NADPH Oxidases