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    Chronic granulomatous disease
    Diagnosis and treatment

    By Mayo Clinic Staff
    March 28, 2025
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    Diagnosis

    To diagnose CGD, a healthcare professional will review a family and medical history and do a physical exam. There are several tests used to diagnose CGD, including:

    • Neutrophil function tests. A healthcare professional may do a dihydrorhodamine 123 (DHR) test or other tests to see how well a type of white blood cell, called a neutrophil, is functioning. This test is commonly used to diagnose CGD.
    • Genetic testing. A genetic test can confirm the presence of a specific genetic alteration that results in chronic granulomatous disease.
    • Prenatal testing. A healthcare professional may do prenatal testing to diagnose CGD if one of your children already has been diagnosed with CGD.

    Treatment

    Treatment for CGD is aimed at helping avoid infections and manage the condition. Treatments may include:

    • Infection management. A healthcare professional will work to prevent bacterial and fungal infections before they start. Treatment may include a trimethoprim and sulfamethoxazole combination (Bactrim, Sulfatrim Pediatric) or itraconazole (Sporanox, Tolsura). Additional antibiotics or antifungal medicines may be necessary should infection happen.
    • Interferon-gamma. Someone with CGD may occasionally have interferon-gamma injections, which may help boost cells in the immune system to fight infections.
    • Stem cell transplantation. For some people, a stem cell transplant can provide a cure for CGD. Deciding to treat with stem cell transplantation depends on a number of factors, including prognosis, donor availability and personal preference.

    Potential future treatments

    Gene therapy is currently being explored for CGD treatment, but further research is necessary.

    Researchers also are investigating repairing defective genes to treat CGD.
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    Clinical trials

    Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.

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    1. Zerbe CS, et al. Chronic granulomatous disease: Pathogenesis, clinical manifestations, and diagnosis. https://www.uptodate.com/contents/search. Accessed Feb. 8, 2023.
    2. Chronic granulomatous disease. Medline Plus. https://ghr.nlm.nih.gov/condition/chronic-granulomatous-disease?_ga=1.168947753.905232672.1468720729. Accessed Feb. 14, 2023.
    3. Chronic granulomatous disease. National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/chronic-granulomatous-disease/?filter=ovr-ds-resources. Accessed Feb. 9, 2023.
    4. Marciano BE, et al. Chronic granulomatous disease: Treatment and prognosis. https://www.uptodate.com/contents/search. Accessed Feb. 9, 2023.
    5. Chronic granulomatous disease (CGD). Merck Manual Professional Version. https://www.merckmanuals.com/professional/immunology-allergic-disorders/immunodeficiency-disorders/chronic-granulomatous-disease-cgd. Accessed Oct. 16, 2024.
    6. Ami TR. Allscripts EPSi. Mayo Clinic. Nov. 23, 2022.
    7. Keller MD, et al. Future of care for patients with chronic granulomatous disease: Gene therapy and targeted molecular medicine. Journal of the Pediatric Infectious Diseases Society. 2018; doi:10.1093/jpids/piy011.
    8. Jeffrey Modell Foundation. https://info4pi.org/. Accessed Feb. 9, 2023.

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