CGD is usually diagnosed in childhood. If there is a family history of CGD or a child has symptoms, doctors will test for this condition. Most people will have symptoms by the time they are three years old. Most people affected by CGD will be diagnosed by age five.
A doctor studies a sample of blood or tissue to identify a faulty gene that causes CGD.
During a physical exam, doctors can look for inflammation and granulomas.
Nitroblue tetrazolium tests (NBT) can determine if immune cells are making substances that the body uses to fight infections. Normally, the white blood cells turn blue when NBT is added. This means that the cells should be able to kill bacteria and protect the person from infections.
Dihydrorhodamine 123 (DHR) tests can determine how well a type of white blood cell (neutrophil) in your blood is functioning.
The immune system of a person with CGD does not work properly, leaving the body prone to bacterial and fungal infections. A person with CGD will oftentimes show signs of immunodeficiency at a very young age. Learn more about the “red flag” symptoms of CGD from Dr. Harry Malech.
Learn more about diagnostic testing options for Chronic Granulomatous Disease (CGD).
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