Chronic Granulomatous Disease
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Chronic granulomatous disease develops when a specific gene from both parents passes to the child. This gene causes cells to develop abnormally in the immune system. The cells that are abnormal are called phagocytic cells. They normally kill bacteria. With this disease, these cells cannot work properly. As a result, the body can not fight some types of bacteria. It also makes infections likely to return.

CGD is a rare condition.

The disease is usually caused by a recessive gene. This means two of these defective genes have to be present for the disease to develop. This gene is carried on the X chromosome. Both parents must have the gene.

Risk Factors
The following factors increase your chance of developing CGD:

  • Parents who have the recessive trait
  • Sex: female
    Typically, symptoms begin to appear in childhood. In some, they may not appear until the teen years.

    Symptoms include:

  • Swollen lymph nodes in the neck
  • Frequent skin infections that are resistant to treatment, such as:
    • Abscesses
    • Boils
  • Persistent diarrhea
  • Bone pain
  • Joint pain
Bacterial Skin Infection

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Your doctor will ask about your symptoms and medical history. A physical exam will be done.

You may have your bodily fluids and tissues tested. This can be done with:

  • Biopsy and cultures
  • Blood tests
Images may be taken of your bodily structures. This can be done with:

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

You may be given medications to treat this condition.

  • Antibiotics—used to prevent and treat infections
  • Interferon gamma —reduces the number of infections in patients; not useful in newly active infections
Bone Marrow Transplantation
Bone marrow transplantation may be an option. A suitable donor will need to be found. It is a definitive cure.

Surgery may involve the removal of abscesses.

Some live viral vaccines should be avoided. You should talk to your doctor before receiving one.

CGD is an inherited disease. There are no preventive steps to reduce the risk of being born with the disease. Genetic counseling may be helpful. It can be used to detect carrier status in woman. Early diagnosis is vital. It will allow for early treatment. The bone marrow transplant donor search can also be started.

Genetics Home Reference

National Organization of Rare Disorders


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. EBSCO DynaMed website. Available at: . Updated February 10, 2012. Accessed July 26, 2013.

Chronic granulomatous disease. Genetics Home Reference website. Available at: . Updated August 2012. Accessed July 26, 2013.

Chronic granulomatous disease and other phagocytic cell disorders. Immune Deficiency Foundation website. Available at: . Accessed July 26, 2013.

Dinauer MC, Lekstrom-Himes JA, Dale DC. Inherited Neutrophil Disorders: Molecular Basis and New Therapies. Hematology . 2000;303.

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 July 2013

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