Chronic granulomatous disease

Chronic granulomatous disease (CGD) is an inherited disorder in which certain immune system cells do not function properly. This leads to repeated and severe infection.

Causes

In CGD, immune system cells called phagocytes are unable to kill some types of bacteria and fungi. This disorder leads to long-term ( chronic ) and repeated (recurrent) infections. The condition is often discovered very early in childhood. Milder forms may be diagnosed during the teenage years, or even in adulthood.

Risk factors include a family history of recurrent or chronic infections.

About half of CGD cases are passed down through families as a sex-linked recessive trait . This means that boys are more likely to get the disorder than girls. The defective gene is carried on the X chromosome. Boys have 1 X and 1 Y chromosome. If a boy has an X chromosome with the defective gene, he may inherit this condition. Girls have 2 X chromosomes. If a girl has 1 X chromosome with the defective gene, the other X chromosome may have a working gene to make up for it. A girl has to inherit the defective X gene from both parents in order to have the disease.

Symptoms

CGD can cause many types of skin infections that are hard to treat, including:

• Blisters or sores on the face (impetigo)
• Eczema

  Eczema

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• Growths filled with pus (abscesses)
• Pus-filled lumps in the skin (boils)

CGD can also cause:

• Persistent diarrhea
• Swollen lymph nodes in the neck

  Swollen lymph nodes

  Lymph nodes are present throughout your body. They are an important part of your immune system. Lymph nodes help your body recognize and fight germ...

   

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• Lung infections, such as pneumonia or lung abscess

Exams and Tests

The health care provider will do an examination and may find:

• Liver swelling
• Spleen swelling
• Swollen lymph nodes

There may be signs of a bone infection, which may affect many bones.

Tests that may be done include:

• Bone scan

  Bone scan

  A bone scan is an imaging test used to diagnose bone diseases and find out how severe they are.

   

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• Chest x-ray

  Chest x-ray

  A chest x-ray is an x-ray of the chest, lungs, heart, large arteries, ribs, and diaphragm.

   

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• Complete blood count (CBC)

  Complete blood count

  A complete blood count (CBC) test measures the following:The number of red blood cells (RBC count)The number of white blood cells (WBC count)The tota...

   

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• Flow cytometry tests to help confirm the disease
• Genetic testing to confirm the diagnosis
• Test of white blood cell function
• Tissue biopsy

Treatment

Antibiotics are used to treat the disease, and may also be used to prevent infections. A medicine called interferon-gamma may also help reduce the number of severe infections. Surgery may be needed to treat some abscesses.

The only cure for CGD is a bone marrow or stem cell transplant.

Outlook (Prognosis)

Long-term antibiotic treatments may help reduce infections, but early death can occur from repeated lung infections.

Possible Complications

CGD may cause these complications:

• Bone damage and infections
• Chronic infections in the nose
• Pneumonia that keeps coming back and is hard to cure
• Lung damage
• Skin damage
• Swollen lymph nodes that stay swollen, occur often, or form abscesses that need surgery to drain them

When to Contact a Medical Professional

If you or your child has this condition and you suspect pneumonia or another infection, call your provider right away.

Tell your provider if a lung, skin, or other infection does not respond to treatment.

Prevention

Genetic counseling is recommended if you are planning to have children and you have a family history of this disease. Advances in genetic screening and increasing use of chorionic villus sampling (a test that may be done during a woman's 10th to 12th week of pregnancy) have made early detection of CGD possible. However, these practices are not yet widespread or fully accepted.