Chronic granulomatous disease

Chronic granulomatous (gran-u-LOM-uh-tus) disease (CGD) is an inherited disorder that occurs when a type of white blood cell, called a phagocyte, doesn't work properly. Phagocytes usually help your body fight infections. When they don't work as they should, 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 also may 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. Symptoms associated 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.
• Gastrointestinal problems that may include:
  • Vomiting.
  • Diarrhea.
  • Stomach pain.
  • Bloody stool.
  • A painful pocket of pus near the anus.

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 has frequent infections and the symptoms listed above, talk to your health care provider.

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 is also 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 function properly.

Some people with CGD don't have one of these changed genes. In these cases, health care providers don't know what causes the condition.

Boys are more likely to have CGD.

To diagnose CGD, your health care provider will review your family and medical history and conduct a physical exam. Your provider may order several tests to diagnose CGD, including:

• Neutrophil function tests. Your provider may conduct a dihydrorhodamine 123 (DHR) test or other tests to see how well a type of white blood cell, called a neutrophil, is functioning. Providers usually use this test to diagnose CGD.
• Genetic testing. Your provider may request a genetic test to confirm the presence of a specific genetic alteration that results in chronic granulomatous disease.
• Prenatal testing. Providers may do prenatal testing to diagnose CGD if one of your children already has been diagnosed with CGD.

Treatment for CGD is aimed at helping you avoid infections and manage your condition. Treatments may include:

• Infection management. Your health care provider will work to prevent bacterial and fungal infections before they start. Treatment may include a trimethoprim and sulfamethoxazole combination (Bactrim, Sulfatrim Pediatric) or itraconazole (Sporanox, Tolsura). Additional antibiotics or antifungal medicines may be necessary should infection occur.
• Interferon-gamma. You may occasionally have interferon-gamma injections, which may help boost cells in your immune system to fight infections.
• Stem cell transplantation. In some cases, a stem cell transplant can provide a cure for CGD. Deciding to treat with stem cell transplantation depends on a number of factors, including prognosis, donor availability and personal preference.

Potential future treatments

Gene therapy is currently being explored for CGD treatment, but further research is necessary.

Researchers also are investigating repairing defective genes to treat CGD.