What is chronic granulomatous disease?
Chronic granulomatous disease (CGD) is an inherited immune system disorder that occurs when a type of white blood cell (phagocyte), which usually helps the body fight infection, does not work properly. In CGD, the phagocytes can’t kill germs that are ingested and therefore cannot protect the body from bacterial and fungal infections. Children with CGD are often healthy at birth but develop severe infections in infancy and during early childhood. Rarely, in milder forms, the diagnosis doesn’t become clear for years or decades.
Because they are unable to fight off infections, children with CGD often get very sick from bacteria that could be mild or cause no disease at all in a healthy child. These infections may affect the lungs, skin, liver, lymph nodes and intestines. Children may also develop masses of inflammatory tissue called granulomas in response to chronic infections. These granulomas usually develop in the skin, gastrointestinal tract and genitourinary tract. CGD was named for these masses of inflammation before the genetic causes were discovered.
What are the symptoms of CGD?
Most children with CGD are diagnosed by age 5. The most common symptoms of the disease include:
- spleen and liver abscesses
- osteomyelitis: a bone infection
- suppurative arthritis: the invasion of a joint by a bacterial infection, which causes arthritis
- superficial skin infections, such as cellulitis and impetigo
- fungal infections
How we care for CGD
Children with CGD are treated by the Boston Children's Hospital Immunology Program. Our program provides comprehensive care for various types of immune system disorders, including CGD, and our patients have access to some of the most advanced diagnostics and treatments available.
Gene therapy for CGD
Chronic Granulomatous Disease (CGD) | Diagnosis & Treatments
How is chronic granulomatous disease diagnosed?
Chronic granulomatous disease (CGD) is diagnosed through:
- neutrophil function tests to determine how well these white blood cells are functioning
- dihydrorhodamine reduction test
- genetic testing to confirm the presence of a specific gene mutation that results in CGD
After all tests are completed, doctors will be able to outline the best treatment options.