Chronic Granulomatous Disease (CGD)

What is chronic granulomatous disease?

Chronic granulomatous disease (CGD) is a genetic primary immunodeficiency disease. It makes the body more susceptible to fungi and bacteria; people with this disease can become very sick from illnesses that would be mild in those who are not affected by CGD. When there are sites of infection or inflammation, masses called granulomas form. 

What are the symptoms of chronic granulomatous disease?

People with this condition are generally healthy until they are infected. The most common infections include pneumonia, lung infections, skin infections, lymph node infections, liver infections, gastrointestinal inflammation, or various other infections. Granulomas may form in infected areas. 

What causes chronic granulomatous disease?

This disease occurs when phagocytes, which are a type of white blood cell, do not work properly. These cells are meant to protect the body from infection, so when they do not work, the body is unable to protect itself. 

A mutation in one of five genes can cause a malfunction of the phagocytes. These genes are the CYBA, CYBB, NCF1, NCF2, and NCF4 genes. The CYBB gene is inherited in an X-linked recessive pattern, while the other four are inherited in autosomal recessive patterns. 

How is chronic granulomatous disease diagnosed?

CGD is usually diagnosed in childhood, but some people do not receive their diagnosis until adulthood. Doctors will perform a clinical exam, and then they will review medical and family history. To confirm a diagnosis, they will perform a variety of tests, including neutrophil function tests, genetic tests, and prenatal testing. 

What are the treatments for chronic granulomatous disease?

Treatment consists of avoiding infections. Doctors will work to prevent infections, and they will treat them quickly if they occur. Antibiotic therapy may help with this. Interferon-gamma injections may boost one’s immune system. A possible cure for this disease is a stem cell transplant, but this option depends on a variety of factors. 

Where can I find out more about chronic granulomatous disease?

• • American Academy of Allergy Asthma and Immunology
  • Mayo Clinic
  • NIH