Chronic Granulomatous Disease (CGD)

What is chronic granulomatous disease (CGD)?

Chronic granulomatous disease (CGD) is a rare genetic disease that affects your immune system. With CGD, certain white blood cells (neutrophils, monocytes, macrophages, eosinophils) are unable to attack and destroy certain bacteria and fungi. This means people with CGD are susceptible to chronic inflammation and frequent bacterial and fungal infections because their immune system can’t defend against them. 

People with CGD often develop infections in their skin, lungs, lymph nodes and liver. CGD can increase your risk of developing abscesses (pus-filled pockets) in your organs. Treatment for the condition often involves lifelong antibiotics and antifungals. 

How common is CGD?

CGD is uncommon. Healthcare providers diagnose it in about 1 out of every 250,000 people worldwide. CGD occurs more often in people assigned male at birth (AMAB).

What are the symptoms of chronic granulomatous disease (CGD)?

Signs and symptoms of CGD usually appear in childhood but can appear at any age. The most common symptom is recurrent bacterial and fungal infections, which can be serious.

It’s also common for people with CGD to develop pneumonia and infections in other parts of their bodies like their skin, livers, bones or lymph nodes.

Other signs or symptoms could include:

• Itchy, irritated skin.
• Runny nose.
• Chest pain when breathing.
• Swelling in the lymph nodes.
• Abscesses in your liver, lungs, skin or spleen.
• Granulomas (masses of cells that develop at sites of inflammation or infection).
• Chronic abdominal pain with diarrhea, nausea and vomiting.
• Liver function test abnormalities.

What is the cause of chronic granulomatous disease (CGD)?

CGD is a genetic condition, which means you inherit it from one of your biological parents. A change in one of five genes causes it. In the case of CGD, the gene mutation causes your white blood cells not to work properly.

White blood cells are an essential part of your immune system’s defenses. People with CGD have a faulty gene that makes certain white blood cells unable to produce a specific enzyme. Or, if they make the enzyme, it’s not working properly. Without this enzyme, your white blood cells can’t kill certain bacteria and fungi. This is why you’re more likely to get infections or more susceptible to getting infections.

Healthcare providers classify CGD into two types based on the gene involved:

• X-linked CGD: This most common type of the disease involves a mutation of the CYBB gene. It almost always affects people assigned male at birth. 
• Autosomal recessive CGD: Mutations in the CYBA, NCF1, NCF2, CYBC1 or NCF4 genes cause this type of CGD.

Who is at risk of developing CGD?

People who have a family member with CGD are at a higher risk of having the disease. In most cases, it’s an inherited disease. However, there have been instances of a spontaneous genetic mutation causing CGD.

What are the complications of CGD?

Depending on what gene mutation causes CGD, you could be more at risk for heart and kidney disorders, diabetes or certain autoimmune conditions.

CGD can also lead to complications like:

• Difficulty digesting food due to abscesses and inflammation in your intestines.
• Inflammatory bowel disease (IBD).
• Growth problems (in infants and children).

How is chronic granulomatous disease (CGD) diagnosed?

Your healthcare provider will ask about your medical history and order several tests to diagnose CGD. These tests include:

• Physical exam: During a physical exam, healthcare providers can look for inflammation and granulomas.
• Blood tests: A blood test called a DHR test (dihydrorhodamine test) can diagnose CGD. 
• Genetic testing: A healthcare provider studies a sample of blood or tissue to look for the gene mutation that causes CGD.

What are the treatments for chronic granulomatous disease (CGD)?

Healthcare providers use several different medications to manage the symptoms of CGD:

• Antibiotics: People with CGD may need antibiotics for the rest of their lives to both prevent and treat bacterial infections.
• Antifungals: Antifungal drugs such as itraconazole can treat and prevent fungal infections.
• Interferon-gamma injections: Injections of a synthetic version of a protein made by your body’s immune system may decrease the severity and frequency of infections. 

For some people, healthcare providers may use a stem cell transplant to treat CGD. During a stem cell transplant, healthy stem cells from a donor replace the faulty neutrophils in the white blood cells so they can fight infections. Because this procedure is complicated and has risks, providers look at a person’s age, health and other factors when considering it.

Reducing your risk of infection by taking the following precautions can also help:

• Avoid swimming in freshwater or saltwater and stick to chlorinated pools only. Bacteria and organisms are found more freely in non-chlorinated water.
• Avoid garden mulch and dry leaves, which can cause a life-threatening form of pneumonia. Things like compost piles and hay can also contain bacteria or fungi that are dangerous to people with CGD.

How can you prevent chronic granulomatous disease (CGD)?

You can’t prevent CGD. People with a family history of the disease who want to have children should seek genetic counseling to learn about the risk of having a child with CGD.

What is the outlook for people with chronic granulomatous disease (CGD)?

The outlook is generally very good. Healthcare providers can usually manage symptoms of CGD and prevent serious infections. Treatment may continue indefinitely to keep infections and inflammation from becoming severe.

With ongoing treatment and support, many people with CGD live active and fulfilling lives. Prompt treatment is necessary so that your provider can treat infections before they become severe or life-threatening.

When should I see a healthcare provider about chronic granulomatous disease (CGD)?

Contact your healthcare provider if you or your child experiences symptoms of CGD. One of the first signs of CGD is frequent bacterial and fungal infections.

A note from Cleveland Clinic

Having a condition like CGD requires ongoing treatment to manage your symptoms. Work with your provider to find a regimen that gives you the freedom to enjoy your life and do things you love. A genetic condition like CGD shouldn’t affect your quality of life. If you’re a parent with a child who has CGD, know that this isn’t your fault and that your child still has an excellent prognosis for living a long and happy life.