Chronic Granulomatous Disease (CGD) is a Primary Immunodeficiency caused by changes in the genes that produce NADPH oxidase, an enzyme that helps the immune system fight infections by killing bacteria and fungi. With these genetic defects, the protective proteins do not function properly or are not produced at all. As a result, people with CGD are at a higher risk for severe and repeat infections.

What are the symptoms of CGD?

The Jeffrey Modell Foundation developed the 10 Warning Signs of Chronic Granulomatous Disease (CGD) to increase awareness and early diagnosis. The 10 Warning Signs of CGD are:

  • Serious, unusual, and repeat infections in many areas of the body (including the lungs, liver, and bones)
  • Skin and soft tissue abscesses that don't go away
  • Diarrhea or abdominal pain
  • Pain or difficulty eating or going to the bathroom
  • Vomiting after meals
  • Swollen lymph nodes
  • Fever, cough, fatigue, or bone/joint pain
  • Failure to thrive
  • Granulomas (which usually appear in the bladder and intestines)
  • Family members or relatives who have had unusual or serious infections (that have resulted in hospitalizations or even death)

If you or someone you know is experiencing two or more of the warning signs, speak with an immunologist about the possibility of undiagnosed CGD. You can find an immunologist near you with our Find an Expert Immunologist tool.

How do people get CGD?

Chronic Granulomatous Disease (CGD) is a genetic condition that can be passed down from one or both parents. A parent doesn’t need to have CGD to be a carrier and pass it down to their children. 

There are two kinds of CGD:

X-linked CGD (CYBB gene) is the most common form of CGD. It’s passed down from the mother through a faulty X chromosome. Typically males get X-linked CGD and have a 50% chance of having CGD if their mother is a carrier. 

Autosomal recessive CGD (NCF1, NCF2, NCF4, CYBA, CYBC1 genes) occurs when a child’s parents both carry recessive CGD defects. Any child of parents who are both carries have a 25% chance of having autosomal recessive CGD and a 50% chance of being a carrier.

How is CGD diagnosed?

A doctor can diagnose Chronic Granulomatous Disease (CGD) through a dilhydrorhodamine (DHR) test, a blood test which can determine a person’s type of CGD and carrier status. CGD can also be diagnosed through genetic testing.

Learn more about the process of testing for Primary Immunodeficiency in our 4 Stages of Testing.

Are there treatments for CGD?

Treatments for Chronic Granulomatous Disease (CGD) help patients avoid infections and manage their symptoms. Potential treatments for CGD include antibiotics and antifungals to prevent infection, interferon-gamma injections to boost cells in the immune system, and stem cell transplants.

Research and clinical trials are exploring gene therapy as a potential treatment for CGD patients.