Chronic granulomatous disease: overview and hematopoietic stem cell transplantation

J Allergy Clin Immunol. 2011 Jun;127(6):1319-26; quiz 1327-8. doi: 10.1016/j.jaci.2011.03.028. Epub 2011 Apr 17.


Chronic granulomatous disease (CGD) still causes significant morbidity and mortality. The difficulty in considering high-risk yet curative treatments, such as allogeneic bone marrow transplantation, lies in the unpredictable courses of both CGD and bone marrow transplantation in different patients. Some patients with CGD can have frequent infections, granulomatous or autoimmune disorders necessitating immunosuppressive therapy, or both but also experience long periods of relative good health. However, the risk of death is clearly higher in patients with CGD of all types, and the complications of CGD short of death can still cause significant morbidity. Therefore, with recent developments and improvements, bone marrow transplantation, previously considered an experimental or high-risk procedure, has emerged as an important option for patients with CGD. We will discuss the complications of CGD that result in significant morbidity and mortality, particularly the most common infections and autoimmune/inflammatory complications, as well as their typical management. We will then discuss the status of bone marrow transplantation.

Publication types

  • Research Support, N.I.H., Intramural
  • Review

MeSH terms

  • Autoimmunity
  • Granulomatous Disease, Chronic / complications
  • Granulomatous Disease, Chronic / etiology
  • Granulomatous Disease, Chronic / therapy*
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Infections / etiology
  • Inflammation / etiology
  • Mutation
  • NADPH Oxidases / genetics
  • Transplantation, Homologous


  • NADPH Oxidases