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Chronic Granulomatous Disease (CGD)

CGD Overview

Chronic Granulomatous Disease (CGD) is an inherited primary immunodeficiency disease (PIDD) which increases the body’s susceptibility to infections caused by certain bacteria and fungi. Granulomas are masses of immune cells that form at sites of infection or inflammation.

People with CGD are unable to fight off common germs and get very sick from infections that would be mild in healthy people. This is because the presence of CGD makes it difficult for cells called neutrophils to produce hydrogen peroxide. The immune system requires hydrogen peroxide to fight specific kinds of bacteria and fungi.

These severe infections can include skin or bone infections and abscesses in internal organs (such as the lungs, liver or brain).

Aside from the defective neutrophil function in CGD, the rest of the immune system is normal. People with CGD can be generally healthy until they become infected with one of these germs. The severity of this infection can lead to prolonged hospitalizations for treatment.

Children with CGD are often healthy at birth, but develop severe infections in infancy or early childhood. The most common form of CGD is genetically inherited in an X-linked manner, meaning it only affects boys. There are also autosomal recessive forms of CGD that affect both sexes.

Therapeutic options for CGD include prophylactic antibiotics and antifungal medications, interferon-gamma injections, and aggressive management of acute infections. Bone marrow transplantation can cure CGD, however this therapy is complex and transplant candidates and donors must be carefully selected, weighing the risks and benefits carefully. Researchers are investigating other approaches including gene therapy as a future option. 

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CGD Symptoms & Diagnosis

People with CGD can easily fight off some infections, but not those that need the body’s natural ability to produce hydrogen peroxide to control disease. For this reason, symptoms of recurrent bacterial or fungal infections may be sporadic.

CGD may involve any organ system or tissue of the body, but infections are usually found in the:
• Skin
• Lungs
• Lymph nodes
• Liver
• Bones
• Occasionally the brain

Wounds may also have trouble healing and an inflammatory condition known as granuloma may develop.

Pneumonia caused by a fungus such as Aspergillus is a red flag for CGD and often results in testing.

The timing of diagnosing CGD is often dependent upon when an infant or child begins having recurrent bacterial or fungal infections associated with the disease.

The most accurate test to confirm CGD is made by measuring the amount of hydrogen peroxide produced by the body’s cells.

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CGD Treatment & Management

The best treatment plan for CGD is to prevent infections from occurring. Special preventative antibiotics are a mainstay of treatment for CGD. These greatly reduce the chances of infection.

People with CGD should also avoid swimming other than in chlorinated pools. Fresh or salt water may contain organisms that, while safe for healthy people, can cause infection in people with CGD.

Exposure to garden mulch can cause a life-threatening form of Aspergillus pneumonia. People with CGD should never use mulch in their own yards and should stay indoors while it is being spread in neighboring yards.

Turning compost piles, repotting plants, cleaning cellars and riding on hay rides are other activities that should be avoided. Marijuana can also contain Aspergillus and should not be smoked by CGD patients.

When an infection occurs, antibiotic treatment is prescribed but it generally requires a much longer amount of time to be effective.

Bone marrow transplant is another treatment option for some people with severe symptoms of CGD.

To learn more about PIDDs visit the Immune Deficiency Foundation website.

Allergies and Asthma

Look to the experts.

The AAAAI’s Find an Allergist / Immunologist service is a trusted resource to help you find a specialist close to home.

Click here for a collection of CGD videos from the Clinical Immunology Society.

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