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Chronic Granulomatous Disease (CGD)


James Fernandez

, MD, PhD, Cleveland Clinic Lerner College of Medicine at Case Western Reserve University

Reviewed/Revised Jan 2023

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 drugs to prevent infections and to reduce the number and severity of infections, as well as transfusions and stem cell transplantation.

Normally, phagocytes (types of white blood cells Components of the Immune System The immune system is designed to defend the body against foreign or dangerous invaders. Such invaders include Microorganisms (commonly called germs, such as bacteria, viruses, and fungi) Parasites... read more , 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 Osteomyelitis Osteomyelitis is a bone infection usually caused by bacteria, mycobacteria, or fungi. Bacteria, mycobacteria, or fungi can infect bones by spreading through the bloodstream or, more often, by... read more ). Pockets of pus (abscesses) can develop around the anus and in the lungs and liver.

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 drugs to prevent and treat infections

  • Interferon gamma

  • Transfusions of granulocytes

  • Stem cell transplantation

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 Stem Cell Transplantation Stem cell transplantation is the removal of stem cells (undifferentiated cells) from a healthy person and their injection into someone who has a serious blood disorder. (See also Overview of... read more 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 Suppression of the Immune System Transplantation is the removal of living, functioning cells, tissues, or organs from the body and then their transfer back into the same body or into a different body. The most common type of... read more ) 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.

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