• Chronic Granulomatous Disease

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


    Chronic granulomatous disease develops when a specific gene from both parents passes to the child. This gene causes abnormal cells to develop in the immune system. The abnormal cells 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.
    The increased risk of infections can lead to premature death. Repeated lung infections are often the cause of death with this disease. Preventative care and treatment can help to reduce and temporarily control infections.
    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
    • Being female


    • 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
    Copyright © Nucleus Medical Media, Inc.


    Your doctor will ask about your symptoms and medical history. A physical exam will be done.
    Tests may include the following:
      You may have you bodily fluids and tissue tested. This can be done with:
      • Biopsy
      • Complete blood count (CBC)
      • Dihydrorhodamine reduction (DHR) flow cytometry test—a blood test that looks at the ability of phagocytes to make chemicals that can destroy bacteria
      • Erythrocyte sedimentation rate (ESR)—to test for inflammation
      You may have pictures 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 http://ghr.nlm.nih.gov

    National Organization of Rare Disorders http://www.rarediseases.org


    Health Canada http://www.hc-sc.gc.ca

    Sick Kids http://www.sickkids.ca


    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: http://www.ebscohost.com/dynamed/what.php . Updated February 10, 2012. Accessed January 31, 2013.

    Chronic granulomatous disease. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition/chronic-granulomatous-disease . Updated August 2012. Accessed January 31, 2013.

    Chronic granulomatous disease. Immune Deficiency Foundation website. Available at: http://primaryimmune.org/about-primary-immunodeficiency-diseases/types-of-pidd/chronic-granulomatous-disease . Accessed January 31, 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.

    Revision Information

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