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Primary Immune Deficiency Diseases

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Chronic Granulomatous Disease (CGD)

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What is CGD?

CGD is an inherited syndrome in which white blood cells called phagocytes are unable to kill certain bacteria and fungi. People with CGD have increased susceptibility to infections caused by certain types of bacteria and fungi. Some examples of these types of bacteria include the following:

  • Staphylococcus aureus
  • Serratia marcescens
  • Burkholderia cepacia
  • Nocardia species

And here are the fungi related to CGD:

  • Aspergillus species

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Causes

CGD is caused by defects in an enzyme that phagocytes need to kill bacteria and fungi. Mutations in one of five different genes can cause this defect, which leads to frequent and sometimes life-threatening infections of the skin, lungs, and bones with swollen collections of inflammatory cells called abscesses (boils) or granulomas (inflamed masses of tissue).

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Signs and symptoms

CGD may be suspected in children or adults with the following symptoms:

  • Abscesses that involve the lungs, liver, spleen, bones, or skin
  • Infections caused by unusual germs, such as fungi or Nocardia
  • Granulomas (tissue masses that can obstruct the bowel or urinary tract or complicate wounds)

In some people, granulomas can cause inflammatory bowel disease that looks a lot like Crohn’s Disease.

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Diagnosis

CGD is diagnosed by special blood tests that show how well phagocytes produce hydrogen peroxide.

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Treatment

The key to managing CGD is early diagnosis and treatment with appropriate antibiotics. The goal is to prevent infections and their aftermath.

  • Antibiotics taken throughout life help prevent bacterial infections.
  • Antifungals taken throughout life help prevent fungal infections.
  • Injections with interferon gamma, a protein that improves activity of phagocytes, may also be helpful.
  • Abscesses often must be drained surgically.
  • Granulomas may become smaller with steroid therapy.
  • Some people have been treated successfully with bone marrow transplantation.

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Last Updated October 20, 2010

Last Reviewed October 14, 2010