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    Chronic granulomatous disease

    CGD; Fatal granulomatosis of childhood; Chronic granulomatous disease of childhood; Progressive septic granulomatosis

    Chronic granulomatous disease is an inherited disorder in which immune system cells called phagocytes do not function properly. This leads to ongoing and severe infection.


    Chronic granulomatous disease (CGD) is a genetic disorder in which certain immune system cells are unable to kill some types of bacteria and fungi. The disorder leads to long term (chronic) and repeated (recurrent) infections. The condition is often discovered in very early childhood. Milder forms may be diagnosed during the teen years or even in adulthood.

    Impetigo, skin abscesses and furuncles, and perianal and rectal abscesses are common in people with this disorder. Pneumonia that keeps coming back, and is caused by bacteria not typical of most pneumonias, is a significant problem. Chronic swelling of the lymph nodes in the neck, with the formation of abscesses, is common.

    Risk factors include a family history of recurrent or chronic infections.

    About half of CGD cases are passed down through families as a recessive, sex-linked trait. This means that boys are more likely to get the disorder than girls. Boys have an X and a Y chromosome. Girls have two X chromosomes. The defective gene is carried on the X chromosome. So, if a girl has one X chromosome with the defective gene, the other X chromosome may have a working gene to make up for it. A girl has to inherit the defective gene from both parents in order to have the disease.


    • Bone infections
    • Frequent and difficult-to-clear skin infections
      • Abscesses
      • Chronic infection inside the nose
      • Furuncles
      • Impetiginized eczema (eczema complicated by an infection)
      • Impetigo
      • Perianal abscesses (abscesses around the anus)
    • Joint infections
    • Persistent diarrhea
    • Pneumonia
      • Occurs frequently
      • Difficult to cure
    • Swollen lymph nodes in the neck; those develop early in life, and stay swollen or occur frequently. The lymph nodes may form abscesses that require surgical drainage.

    Exams and Tests

    Your doctor or nurse will examine you. This may show:

    • Liver swelling(hepatomegaly)
    • Spleen swelling (splenomegaly)
    • Swollen lymph nodes

    There may be signs of a bone infection (osteomyelitis ), sometimes affecting multiple bones.

    Tests that may be done include:

    • Bone scan
    • Chest x-ray
    • Complete blood count (CBC)
    • Flow cytometry tests to help confirm the disease
    • Nitroblue tetrazolium test (NBT) to help confirm the disease and detect that the mother is a carrier
    • Tissue biopsy


    Antibiotics are used to treat the disease and may also be used to prevent infections.Interferon-gamma may also help reduce the number of severe infections. Surgery may be needed to treat some abscesses.

    The only cure for chronic granulomatous disease is a bone marrow or stem celltransplant.

    Outlook (Prognosis)

    Long-term antibiotic treatments may help to reduce infections, but early death is typically a result of repeated lung infections.

    Possible Complications

    • Bone damage
    • Chronic pneumonia
    • Lung damage
    • Skin damage

    When to Contact a Medical Professional

    If you or your child have this condition and you suspect pneumonia or other infection, call your health care provider immediately.

    Notify your health care provider if a lung, skin, or other infection does not respond to treatment.


    Genetic counseling is recommended if you are planning to have children and have a family history of this disease. Advances in genetic screening and increasing use of chorionic villus sampling have made early recognition of CGD possible. However, the practice is not yet widespread or fully accepted. There are tests available for women to identify if you carry the disease.


    Boxer LA, Newburger PE. Disorders of phagocyte function. In: Kliegman RM, Stanton BF, St. Geme JW III, et al, eds. Nelson Textbook of Pediatrics. 19th Ed. Philadelphia, Pa: Saunders Elsevier; 2011: chap 124.

    Glogauer M. Disorders of phagocyte function. In: Goldman L,Schafer AI, eds. Cecil Medicine. 24th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 172.


    • Antibodies


      • Antibodies


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            Tests for Chronic granulomatous disease

            Review Date: 10/6/2012

            Reviewed By: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine. Jatin M. Vyas, MD, PhD, Assistant Professor in Medicine, Harvard Medical School; Assistant in Medicine, Division of Infectious Disease, Department of Medicine, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.

            The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

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