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, and intestines. Pockets of pus (abscesses) can develop around the anus and in the lungs, bones, and liver. The lymph nodes tend to fill with bacteria and enlarge. The skin over the lymph nodes may break down. As a result, the abscess drains. 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 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 also given regularly if people have had even one fungal infection. Stem cell transplantation has been successful in some people but, because it has risks, is usually recommended only if people have a brother or sister who has the exact same tissue type and who can donate the cells.

Last full review/revision September 2008 by Rebecca H. Buckley, MD