Learn about this inherited disease usually diagnosed in childhood that makes it difficult for your body to fight infections.
Chronic granulomatous (gran-u-LOM-uh-tus) disease (CGD) is an inherited disorder that occurs when a type of white blood cell (phagocyte) 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 chronic granulomatous disease experience serious bacterial or fungal infection every few years. An infection in the lungs, including pneumonia, is common. People with CGD may develop a serious type of fungal pneumonia after being exposed to dead leaves, mulch or hay.
It's also common for people with CGD to experience infections of the skin, liver, stomach and intestines, brain, and eyes. Signs and symptoms associated with infections include:
If you think you or your child has a type of fungal pneumonia from being around dead leaves, mulch or hay, get medical care right away. If you or your child has frequent infections and the signs and symptoms listed above, talk to your doctor.
A mutation in one of five genes can cause CGD. People with CGD inherit the gene mutation from a parent. The genes normally produce proteins that form an enzyme that helps your immune system work properly. The enzyme is active in white blood cells (phagocytes) that catch and destroy fungi and bacteria to protect you from infections. The enzyme is also active in immune cells that help your body heal.
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.
Boys are more likely to have CGD.
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:
Treatment for CGD is aimed at helping you avoid infections and manage your condition. Treatments may include:
Gene therapy is currently being explored for CGD treatment, but further research is necessary.
Researchers are also investigating repairing defective genes to treat CGD.
December 24th, 2020