Chronic granulomatous disease (CGD) is an inherited immune
system disorder that occurs when a type of white blood cell that usually helps
the body fight infection, called a phagocyte, does not work properly. In CGD,
the phagocytes can’t kill germs that are ingested, and so 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
Because they are unable to fight off infections, children with
CGD often get very sick from bacteria that would 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 with the condition 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. The disease was named for these masses of
inflammation before the genetic causes of CGD were discovered.
Children with CGD are treated at Dana-Farber/Boston Children’s
through our Blood Disorders Center. Continue reading to learn more about CGD or
visit the Blood Disorders Center homepage to learn about
our expertise and treatment options.
Most children with chronic granulomatous disease (CGD) are
diagnosed by age 5. The most common symptoms of the disease include:
Chronic granulomatous disease (CGD) is diagnosed through:
After all tests are completed, doctors will be able to
outline the best treatment options.
Treatment for chronic granulomatous disease
A new gene therapy clinical trial at Dana-Farber/Boston
Children’s may help pave the way toward new treatment approaches for CGD.