Chronic granulomatous disease is a hereditary immunodeficiency disorder in which phagocytes (a type of white blood cell) malfunction.
Normally, phagocytes (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. This disorder usually affects boys.
Symptoms 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 the disorder, doctors take a sample of blood and send it to a laboratory, which measures the activity of phagocytes in response to microorganisms.
Antibiotics, usually trimethoprim/sulfamethoxazole, are given regularly and indefinitely to prevent infection. Interferon gamma, injected 3 times a week, can reduce the number and severity of infections. Antifungal drugs are usually also given regularly to help prevent fungal infections.
Transfusions of phagocytes can be lifesaving when the other, usual treatments have been ineffective.
Stem cell transplantation has cured some people. 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.
Last full review/revision February 2014 by James Fernandez, MD, PhD