Chronic granulomatous disease is a hereditary immunodeficiency disorder in which phagocytes (a type of white blood cell) malfunction.
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 medications 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, 2 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 bacteria and fungi but cannot produce the substances (such as hydrogen peroxide and superoxide) that kill them.
Symptoms of CGD
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 intestine. 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.
Diagnosis of CGD
Blood tests
Sometimes genetic testing
To diagnose chronic granulomatous disease, doctors do a blood test that measures the activity of phagocytes in response to microorganisms.
Doctors may do genetic tests to check for the specific mutations that cause this disorder.
Treatment of CGD
Antibiotics and antifungal medications to prevent and treat infections
Interferon gamma
Transfusions of granulocytes
Stem cell transplantation
Interferon gamma (a medication 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 (but not the abnormal gene) 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 medications to suppress the immune system (immunosuppressants) and thus help prevent rejection of the transplant.
More Information
The following English-language resource may be useful. Please note that The Manual is not responsible for the content of this resource.
Immune Deficiency Foundation: Chronic granulomatous disease and other phagocytic cell disorders: General information on chronic granulomatous disease, including information on diagnosis and treatment
