Chronic granulomatous disease, or CGD, is a condition where white blood cells are unable to protect the body from potentially harmful microbes. These can cause serious infections in the internal organs.
Chronic granulomatous disease (CGD) is an inherited disorder that affects the immune system.
In people with this condition, phagocytes – which are types of white blood cells of the cellular immune system such as neutrophils and macrophages – are unable to attack and destroy certain microbes. Infections associated with these microbes can be life-threatening.
In people with CGD, infections often occur more commonly in the skin, lung, lymph nodes and liver. CGD can increase your risk of developing abscesses (pus-filled pockets) in the internal organs. Some people with CGD develop inflammation (swelling) at various sites in the body.
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CGD is not common. Doctors diagnose it in about 1 out of every 200,000 to 250,000 people worldwide. CGD occurs more often in males than in females.
People who have a family member with CGD are at a higher risk of having the disease. In most cases, it is inherited. Less commonly a spontaneous genetic mutation causes it.
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Signs and symptoms of CGD usually appear early in childhood and very uncommonly are diagnosed in adults. They can include:
CGD is a type of genetic disorder called a primary immunodeficiency disease (PIDD). The immune system does not work properly in people with these diseases.
White blood cells are an essential part of your immune system’s defenses. People with CGD have a faulty gene that makes white blood cells called neutrophils less able to produce reactive oxygen species, in what is known as a “respiratory burst.” Without a fully functional respiratory burst, these phagocytes cannot kill certain bacteria and fungi.
The genetic mutations associated with CGD are hereditary (passed from a parent to a child). Doctors classify CGD into two types based on the gene involved:
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Your doctor will ask about your family medical history and order several tests to diagnose CGD. These tests include:
Doctors use several different drugs to manage the symptoms of CGD:
For some people, doctors may use a stem cell transplant to treat or, in some cases, cure 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, doctors look at a person’s age, health and other factors when considering it.
CGD can lead to complications including:
You cannot 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 the disorder.
Doctors can successfully manage many cases of CGD. Treatments 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 needed so that a doctor can treat infections before they become severe or life-threatening.
Contact your healthcare provider if you or your child experiences symptoms of CGD.
If you or your child has CGD, you may want to ask your doctor:
Last reviewed on 08/23/2019.
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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