People with chronic granulomatous disease have persistent infections of the skin, lungs, lymph nodes, mouth, nose, urinary tract, and intestine.
Doctors diagnose the disorder based on blood tests.
Treatment involves drugs to prevent infections and to reduce the number and severity of infections, as well as transfusions and stem cell transplantation.
(See also Overview of Immunodeficiency Disorders.)
Chronic granulomatous disease is a primary immunodeficiency disorder. It is usually inherited as an X-linked recessive disorder. X-linked means that the disorder is due to a mutation in a gene on the X (sex) chromosome. X-linked recessive disorders occur only in boys. Sometimes chronic granulomatous disease is inherited as an autosomal (not X-linked) recessive disorder. For autosomal recessive disorders to be inherited, two genes for the disorder, one from each parent, are required.
Normally, phagocytes (types of white blood cells, including neutrophils, eosinophils, monocytes, and macrophages) ingest and kill microorganisms. In chronic granulomatous disease, phagocytes can ingest but cannot produce the substances (such as hydrogen peroxide and superoxide) that kill certain bacteria and fungi.
Symptoms of chronic granulomatous disease usually first appear during early childhood but sometimes not until adolescence. Chronic infections occur in the skin, lungs, lymph nodes, mouth, nose, urinary tract, and intestines. People may have a bone infection (osteomyelitis). Pockets of pus (abscesses) can develop around the anus and in the lungs and liver.
The lymph nodes tend to fill with bacteria and enlarge. The skin over the lymph nodes may break down and allow pus to drain.
The liver and spleen enlarge.
Children may grow slowly.
To diagnose chronic granulomatous disease, doctors take a sample of blood and send it to a laboratory, which measures the activity of phagocytes in response to microorganisms. Doctors may also do genetic tests to check for the specific mutations that cause this disorder.
Antibiotics, usually trimethoprim/sulfamethoxazole, are given regularly and indefinitely to prevent infection. Antifungal drugs (such as itraconazole) are usually also given regularly to help prevent fungal infections.
Interferon gamma (a drug that modifies the immune system), injected 3 times a week, can reduce the number and severity of infections.
Transfusions of granulocytes can be lifesaving when the other, usual treatments have been ineffective. Granulocytes are a type of white blood cell that includes some phagocytes.
Stem cell transplantation has cured some people with chronic granulomatous disease. Close relatives who have a similar tissue and blood types are the best donors. If they are willing to donate, they can be tested to determine whether their tissue and blood types are compatible with those of the affected person. Before transplantation, the person is given drugs to suppress the immune system (immunosuppressants) and thus help prevent rejection of the transplant.
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