Chronic Granulomatous Disease (CGD)

What is chronic granulomatous disease (CGD)?

Chronic granulomatous disease (CGD) is an inherited primary immunodeficiency disease,  which increases the body’s susceptibility to infections as a result of immune system cells called phagocytes being unable to kill certain types of bacteria and fungi.

What are the symptoms of chronic granulomatous disease (CGD)?

• Blisters or sores on the face (impetigo)
• Eczema
• Growths filled with pus (abscesses)
• Pus-filled lumps in the skin
• Diarrhea
• Swollen lymph nodes in the neck
• Lung infections

What causes chronic granulomatous disease (CGD)?

Chronic granulomatous disease is a genetic disease; mutations in any one of five different genes can cause a defect in the phagocyte NADPH oxidase enzyme. Certain white blood cells use this enzyme to produce hydrogen peroxide, which cells need to kill certain bacteria and fungi. About half of CGD cases are passed down through families as a sex-linked recessive trait.

How is chronic granulomatous disease (CGD) diagnosed?

A diagnosis of CGD is commonly made based on a thorough clinical evaluation and a detailed patient history. Other tests include:

• A specialized procedure called nitroblue tetrazolium (NBT) slide test
• Liver swelling text
• Spleen swelling test
• Lymph nodes swelling test
• Bone scan
• Complete blood count
• Flow cytometry tests
• Genetic testing
• White blood cell test
• Tissue biopsy

What treatments are available for chronic granulomatous disease (CGD)?

The only cure for CGD is a bone marrow or stem cell transplant. Antibiotics can be used to fight or help prevent infections. A medicine called Interferon-gamma may also help reduce the number of severe infections.

Where can I find out more about chronic granulomatous disease (CGD)?

• NIH
• National Organization for Rare Disorders (NORD)
• Mayo Clinic