Overview
Chronic granulomatous (gran-u-LOM-uh-tus) disease (CGD) is a genetic condition in which infection-fighting white blood cells don't work properly. These white blood cells are called phagocytes. When phagocytes don't work as they should, they can't protect the body from bacterial and fungal infections.
People with CGD may develop infections in their lungs, skin, lymph nodes, liver, stomach and intestines, or other areas. They also may develop clusters of white blood cells in infected areas. CGD is inherited, meaning it runs in families. Most people are diagnosed with CGD during childhood, but some people may not be diagnosed until adulthood.
Symptoms
People with chronic granulomatous disease get a 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. Symptoms that may happen with infections include:
- Fever.
- Chest pain when inhaling or exhaling.
- Swollen and sore lymph glands.
- An ongoing runny nose.
- Skin irritation that may include a rash, swelling or redness.
- Swelling and redness in the mouth.
- Trouble swallowing.
- Gastrointestinal problems that may include:
- Vomiting.
- Diarrhea.
- Stomach pain.
- Bloody stool.
- A painful pocket of pus near the anus, called an abscess.
When to see a doctor
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 often has infections and the symptoms listed above, talk to a healthcare professional.
Causes
A change in one of five genes can cause CGD. People with CGD inherit the changed gene from a parent. These genes produce proteins that form an enzyme. This enzyme helps your immune system work properly. The enzyme is active in white blood cells, called phagocytes, that protect you from infections by destroying fungi and bacteria. The enzyme also is active in immune cells that help your body heal.
When there are changes to one of these genes, the protective proteins are not produced. Or they're produced, but they don't work properly.
Some people with CGD don't have one of these changed genes. In these cases, medical professionals don't know what causes the condition.
Risk factors
Boys are more likely to have CGD.