Chronic Granulomatous Disease

Only four or five of every million people develop CGD. Males are four times more likely to get this disease than are females. Their immune systems are not effective against certain bacteria and fungi, including E. coli and Staphylococcus aureus (staph), as well as less common germs like Pseudomonas, Serratia, and Aspergillus.

What causes CGD?

Patients with CGD have poorly functioning phagocytes caused by mutations in one of four different genes. The abnormal genes cannot make proteins necessary to produce oxygen byproducts, such as hydrogen peroxide and superoxide, which kill bacteria and fungi.

What are the symptoms of CGD?

Doctors may suspect CGD in babies between three months and two years of age who have had

• Fevers
• Skin rashes
• Persistent cough
• Boils
• Gum disease
• Swollen glands or lymph nodes
• Enlarged liver and spleen

Children with CGD, however, may not develop symptoms until as late as adolescence.

Repeated infections can cause tumor-like masses or "granulomas" to develop in the skin, lungs, lymph nodes, liver, or bones. Granulomas can block the gastrointestinal or urinary tracts. They tend to heal slowly and to drain for a long time after treatment.

How is CGD diagnosed?

The doctor will order lab tests to look for certain blood abnormalities including an increased number of white blood cells and low number of red blood cells (anemia). Patients also often have

• abnormal chest x-rays
• excessively high level of immunoglobulins in the blood
• elevated erythrocyte sedimentation rate or ESR (a sign of chronic infection or inflammation) They usually have normal antibody levels. To confirm a CGD diagnosis, specialized laboratories perform various tests of phagocyte function.

How is CGD treated?

Early diagnosis of CGD is critically important. The goal is to prevent infections and their aftermath. Key issues to remember:

• High doses of antibiotics over a long period of time help treat infections.
• Oral antibiotics, such as trimethoprim combined with sulfamethoxazole, taken continuously help prevent infections.
• Abscesses often must be drained surgically.
• Granulomas ultimately go away with long-term antibiotic therapy.
• Steroids reduce gastrointestinal and genitourinary tract obstructions.
• Anemia may require whole-blood transfusions.

Some people have been treated successfully with bone marrow transplantation, and this may be an option if a suitable donor can be found.

Researchers are investigating gene therapy. NIAID scientists helped pinpoint the genes responsible for CGD. They also developed the approved CGD treatment that uses gamma interferon. Health care workers or others can treat patients at home with injections three times a week. This treatment reduces the number of serious infections by up to 72 percent.

For More Information:

• Primary Immunodeficiency

^{reproduced from the National Institute of Allergy and Infectious Diseases Fact Sheet on Primary Immune Deficiency}