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Chronic Granulomatous Disease

Chronic Granulomatous Disease


Chronic granulomatous disease (CGD) is an inherited disorder in which white blood cells lose their ability to destroy certain bacteria and fungi.


CGD is an X-linked genetic disease, meaning the defective gene is carried on the X chromosome (one of the sex chromosomes). Females have two copies of the X chromosome, whereas males have one X and one Y. CGD also is a recessive defect meaning that both copies of the chromosome must have the defect before it can be expressed. Females who have one X chromosome without the defect do not get this disease. Males, since they only have one X chromosome, get the disease if the defect is present. Thus, CGD affects mostly males.

CGD is an immunodeficiency disorder. Patients with immunodeficiency disorders suffer frequent infections. This happens because part of their immune system isn't working properly and the infectious microorganisms are not killed as rapidly as is normal. In CGD there is a defect in the ability of the white blood cells to kill bacteria and fungi. The white blood cells affected are phagocytic cells. They are part of the non-specific immune system and move via the blood to all parts of the body where they ingest and destroy microbes. Phagocytic cells are the first line of defense against microorganisms. In this disease, the decreased ability to kill microbes that they have ingested leads to a failure to effectively combat infectious diseases. Patients with CGD are subject to certain types of recurring infection, especially those of the skin, lungs, mouth, nose, intestines, and lymph nodes. With the exception of the lymph nodes, all of these areas are considered external tissues that come into contact with microorganisms from the environment. The lymph system drains all areas of the body to eliminate destroyed microorganisms and to assist the immune system in attacking microorganisms. Infections occur in the lymph nodes as a consequence of the normal draining function.

Causes and symptoms

The genetic defect that causes CGD reduces the amount of hydrogen peroxide and superoxide that white blood cells can make. These chemicals are important for killing bacteria and fungi. Without them the white blood cells ingest the microorganisms, but cannot kill them. In some cases, the microbes then replicate inside the white blood cell eventually causing its death.

Symptoms of the disease usually appear by age two. Frequent, recurrent infections of the skin, lungs (e.g. pneumonia ), mouth (e.g. gingivitis), nose, intestines and lymph nodes are a hallmark of this disease. Patients may also develop multiple, recurrent liver abscesses and bone infections (osteomyelitis ).


Diagnosis is made based on the observation of a pattern of recurrent infections. Blood tests of lymphocyte and antibody functions will be normal. Tests of phagocytic cells will show normal ingestion, but a greatly decreased ability to kill bacteria.


Early, aggressive treatment of all infections is critical to the successful management of CGD. Patients are treated with antibiotics and immune serum. Antibiotics are used at the first sign of infection. Immune serum is a source of antibodies that help fight infections. Interferon gamma is an experimental treatment for CGD that has shown promising results. There is no cure for the underlying cause of chronic granulomatous disease


Although antibiotics can treat most infections and may help prevent others, premature death may result, typically due to repeated lung infections.


Since CGD is a hereditary disorder, it cannot currently be prevented. Patients and their families may benefit from genetic counseling. Preventive (prophylactic) antibiotics may help keep some infections from occurring, and good hygiene, especially rigorous skin and mouth care, can help prevent infections in these areas. Avoiding crowds or other people who have infections are also effective preventive measures.



Chronic Granulomatous Disease Association. 2616 Monterey Road, San Marino, CA 91108-1646. (818) 441-4118.

National Organization for Rare Disorders. P.O. Box 8923, New Fairfield, CT 06812-8923. (800) 999-6673.


Immunodeficiency A weakening of the body's immune system.

Phagocytic cells A cell that ingests microorganisms and foreign particles.

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