Understanding Chronic Granulomatous Disease

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Understanding Chronic Granulomatous Disease
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Learn about this inherited disease usually diagnosed in childhood that makes it difficult for your body to fight infections.

Chronic granulomatous disease is an inherited disorder that occurs when a type of white blood cell 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 may develop infections in their lungs, skin, lymph nodes, liver, stomach and intestines, or other areas. They may also develop clusters of white blood cells in infected areas. Most people are diagnosed with CGD during childhood, but some people may not be diagnosed until adulthood.People with CGD experience serious bacterial or fungal infection every few years. An infection in the lungs, including pneumonia, is common.

It's also common for people with CGD to experience infections of the skin, liver, stomach and intestines, brain, and eyes.

When there are mutations to one of these genes, the protective proteins are not produced, or they’re produced but they don’t function properly. Some people with CGD don’t have one of these gene mutations. In these cases, doctors don’t know what causes the condition.To diagnose CGD, your doctor will review your family and medical history and conduct a physical exam. Your doctor may order several tests to diagnose CGD, including:Your doctor may conduct a dihydrorhodamine 123 test or other tests to see how well a type of white blood cell in your blood is functioning. Doctors usually use this test to diagnose CGD.

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