Pulmonary manifestations of chronic granulomatous disease

Expert Rev Clin Immunol. 2013 Feb;9(2):153-60. doi: 10.1586/eci.12.98.


Chronic granulomatous disease (CGD) is an inherited disorder, characterized by defects in superoxide-generating NADPH oxidase of phagocytes. The genetic defects in CGD induce failure to activate the respiratory burst in the phagocytes, leading to severe recurrent infections and unexplained prolonged inflammatory reactions that may produce granulomatous lesions. A noble advance in curative therapy for CGD is hematopoietic stem cell transplantation. Since the most common site of involvement in CGD is the lung, the pulmonologists (pediatrics or adult) may be among the first to recognize the pattern of infection, inflammation and granuloma formation, leading to diagnosis of CGD. Pulmonologists need to be aware of different lung manifestations of CGD.

Publication types

  • Review

MeSH terms

  • Adult
  • Animals
  • Child
  • Diagnosis, Differential
  • Granuloma / etiology
  • Granuloma / prevention & control
  • Granulomatous Disease, Chronic / complications
  • Granulomatous Disease, Chronic / diagnosis
  • Granulomatous Disease, Chronic / therapy*
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Lung / pathology*
  • Mutation / genetics
  • NADPH Oxidases / genetics
  • NADPH Oxidases / metabolism*
  • Phagocytes / metabolism*


  • NADPH Oxidases