Chronic Granulomatous Disease

Also known as: CGD.

What is chronic granulomatous disease?

The phagocyte is one of the body’s blood cells, (part of the body’s defense systems - the immune system) which helps the body fight against bacterial and fungal infections. Chronic granulomatous disease (CGD) is the disorder that develops when this cell doesn’t function properly.

Children with CGD have recurrent illnesses and frequently get very sick from many of the bacterial infections that normally cause little or only mild infections in well children. The granulomas in CGD are nodular lumps of inflammatory material that result from the chronic infections that occur, and are usually found in the skin, and gastrointestinal/genitourinary tracts.

What causes chronic granulomatous disease?

CGD is an inherited disease, most frequently (two thrids of the time) the abnormal gene being carried by the mother (X- linked) and inherited by a son.

In the other cases,  inheritance is in autosomal recessive fashion (to have the disease a child must have two abnormal genes, inheriting one from each parent).

What are the symptoms of chronic granulomatous disease?

Most children (75%) present early with severe recurrent bacterial and fungal infections, frequently involving the skin (abscesses and boils), lungs (pneumonia and lung abscesses), swollen lymph nodes, diarrhea, and liver and spleen abscesses.

Severe generalized infection (sepsis) and bone infections may also occur.

Symptoms related to the presence of granulomas causing inflammation and/or obstructing the gut (e.g.difficulty swallowing, pain, nausea and vomiting and bloody diarrhea etc.) and genitourinary system (e.g. painful urination etc) are frequent.

What are chronic granulomatous disease care options?

Early and aggressive treatment with antibiotics plus other medications (e.g.interferon-gamma, a bone marrow or stem cell transplant) and surgery will be considered by a team of multiple specialists at Nicklaus Children's Cancer Institute to provide the best outcome possible for your child and you and your family.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: May 12, 2023 03:51 PM

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