Chronic Granulomatous Disease
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Chronic Granulomatous Disease

(CGD; Fatal Granulomatosis of Childhood; Chronic Granulomatous Disease of Childhood; Progressive Septic Granulomatosis)

Pronounced: Kron-ik gran-u-lo-ma-tus disease

En Español (Spanish Version)


Chronic granulomatous disease is an inherited condition. It results in the production of abnormal cells in the immune system. These abnormal cells, called phagocytic cells, normally kill bacteria. In chronic granulomatous disease, these cells are impaired. As a result, the body can not fight bacteria and infections recur.

The increased risk of infections can lead to premature death from repeated lung infections. With preventative care and treatment, infections can be reduced and temporarily controlled.

CGD is a very rare condition, affecting only about one individual in a million.


CGD is an inherited disease. The abnormality is usually caused by a recessive gene that is carried on the X chromosome. Some individuals inherit the disease in an autosomal recessive pattern.

Risk Factors

A risk factor is something that increases your chance of getting a disease or condition.

The following factors increase your chance of developing CGD:

  • Having one or both parents who have the disease or carry the recessive trait
  • Being female


  • Swollen lymph nodes in the neck
  • Abscesses in the neck's lymph nodes
  • Frequent skin infections that are resistant to treatment:
    • Chronic infections inside the nose
    • Impetigo (a bacterial skin infection)
    • Abscesses
    • Furuncles (boils)
    • Eczema worsened by an infection
    • Abscesses near the anus
  • Frequent pneumonia that is resistant to treatment
  • Persistent diarrhea
  • Infections of the bones
  • Infections of the joints
  • Fungal infections

Bacterial Skin Infection


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Your doctor will ask about your symptoms and medical history, and perform a physical exam.

Tests may include the following:

  • Biopsy —removal of a sample of tissue to test for the condition
  • DHR fluorescence test
  • Erythrocyte sedimentation rate (ESR)—to test for inflammation
  • Chest x-ray —a test that uses radiation to take pictures of structures inside the chest cavity
  • Bone scan
  • Liver scan
  • Complete blood count (CBC)


Talk with your doctor about the best treatment plan for you. Treatment options include:


Antibiotics are used as preventative and fungal treatment as well as treatment of new infections.

Interferon gamma reduces the number of infections in patients, but is not useful in acute infections. Bone marrow transplantation is a definitive cure.

Bone Marrow Transplantation

Bone marrow transplantation may be a treatment option if a suitable donor can be found.


Surgery may involve the removal of abscesses.


Because CGD is an inherited disease, there are no preventive measures to reduce the risk of being born with the disease. Preventive treatments should focus on reducing the risk of contracting infection and may include preventive use of antibiotics.


National Organization of Rare Disorders

University of Maryland Medical Center


BC HealthGuide

Sick Kids (The Hospital for Sick Children)


Bernhisel-Broadbent J, Camargo EE, Jaffe HS, et al. Recombinant human interferon-gamma as adjunct therapy for Aspergillus infection in a patient with chronic granulomatous disease. J Infect Dis . 1991;163(4):908-911.

Chronic granulomatous disease. IDF Patient/Family Handbook . Immune Deficiency Foundation website. Available at: . Accessed May 30, 2007.

Chronic granulomatous disease. National Library of Medicine website. Available at: . Accessed June 6, 2007.

Chronic granulomatous disease. Primary Immunodeficiency Resource Center website. Available at: . Accessed May 30, 2007.

Dinauer, MC, Lekstrom-Himes, JA, Dale, DC. Inherited Neutrophil Disorders: Molecular Basis and New Therapies. Hematology (Am Soc Hematol Educ Program) 2000; :303.

Doepel L. Chronic granulomatous disease research advances on several fronts. National Institute of Allergy and Infectious Diseases website. Available at: . Accessed May 31, 2007.

Lekstrom-Himes, JA, Gallin JI. Immunodeficiency diseases caused by defects in phagocytes. N Engl J Med . 2000; 343:1703.

Pogrebniak HW, Gallin JI, Malech HL. Surgical management of pulmonary infections in chronic granulomatous disease of childhood. Ann Thorac Surg . 1993;55(4):844-849.

Last reviewed May 2008 by Jill D Landis, MD

Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.

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