Diagnosis

To diagnose CGD, your health care provider will review your family and medical history and conduct a physical exam. Your provider may order several tests to diagnose CGD, including:

Neutrophil function tests. Your provider may conduct a dihydrorhodamine 123 (DHR) test or other tests to see how well a type of white blood cell, called a neutrophil, is functioning. Providers usually use this test to diagnose CGD.
Genetic testing. Your provider may request a genetic test to confirm the presence of a specific genetic alteration that results in chronic granulomatous disease.
Prenatal testing. Providers may do prenatal testing to diagnose CGD if one of your children already has been diagnosed with CGD.

Care at Mayo Clinic

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Treatment

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

Infection management. Your health care provider 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 occur.
Interferon-gamma. You may occasionally have interferon-gamma injections, which may help boost cells in your immune system to fight infections.
Stem cell transplantation. In some cases, 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.

By Mayo Clinic Staff

Chronic granulomatous disease care at Mayo Clinic

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March 23, 2023

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Zerbe CS, et al. Chronic granulomatous disease: Pathogenesis, clinical manifestations, and diagnosis. https://www.uptodate.com/contents/search. Accessed Feb. 8, 2023.
Chronic granulomatous disease. Medline Plus. https://ghr.nlm.nih.gov/condition/chronic-granulomatous-disease?_ga=1.168947753.905232672.1468720729. Accessed Feb. 14, 2023.
Chronic granulomatous disease. National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/chronic-granulomatous-disease/?filter=ovr-ds-resources. Accessed Feb. 9, 2023.
Marciano BE, et al. Chronic granulomatous disease: Treatment and prognosis. http://www.uptodate.com/contents/search. Accessed Feb. 9, 2023.
Chronic granulomatous disease (CGD). Merck Manual Professional Version. https://www.merckmanuals.com/professional/immunology-allergic-disorders/immunodeficiency-disorders/chronic-granulomatous-disease-cgd. Accessed Feb. 9, 2023.
Ami TR. Allscripts EPSi. Mayo Clinic. Nov. 23, 2022.
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.
Jeffrey Modell Foundation. https://info4pi.org/. Accessed Feb. 9, 2023.

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