Chronic granulomatous disease (CGD) is an inherited (genetic) immune system disorder that occurs when a type of white blood cell (phagocyte) that usually helps your body fight infections doesn't work properly. As a result, the phagocytes can't protect your body from bacterial and fungal infections.
People with chronic granulomatous disease often may develop pneumonia, lung infections, skin infections, lymph node infections, liver infections, gastrointestinal inflammation or other infections. They may develop clusters of white blood cells (masses) in infected areas (granulomas). Most people are diagnosed with CGD during childhood, but some people may not be diagnosed until adulthood.
To diagnose chronic granulomatous disease (CGD), your doctor will review your family and medical history and conduct a physical examination. Your doctor may order several tests to diagnose CGD, including:
- Neutrophil function tests. Your doctor may conduct a dihydrorhodamine 123 (DHR) test or other tests to see how well a type of white blood cell (neutrophil) in your blood is functioning. Doctors usually use this test to diagnose CGD.
- Genetic testing. Your doctor may request a genetic test to confirm the presence of a specific genetic mutation that results in chronic granulomatous disease.
- Prenatal testing. Doctors may conduct prenatal testing to diagnose CGD if one of your children already has been diagnosed with CGD.
Treatment for chronic granulomatous disease (CGD) is aimed at helping you avoid infections and manage your condition. Treatments may include:
- Infection management. Your doctor will work to prevent bacterial and fungal infections before they occur. Treatment may include continuous antibiotic therapy, such as trimethoprim and sulfamethoxazole (Septra) to protect against bacterial infections, and itraconazole (Omnel, Sporanox) to prevent fungal infection. Additional antibiotics or antifungal medications may be necessary should infection occur.
- Interferon-gamma. You may have interferon-gamma injections periodically, 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.
Gene therapy is currently being explored for CGD treatment, but further research is necessary before it's a viable option.