Chronic granulomatous disease, or CGD, is a genetic condition where white blood cells are unable to protect your body from potentially harmful bacteria and fungi. This leaves you susceptible to serious infections.
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.
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).
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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:
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:
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.
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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:
Your healthcare provider will ask about your medical history and order several tests to diagnose CGD. These tests include:
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Healthcare providers use several different medications to manage the symptoms of CGD:
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:
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.
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.
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.
Last reviewed on 07/23/2024.
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Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy