Chronic granulomatous disease (CGD) is an inherited disorder in which certain immune system cells do not function properly. This leads to repeated and severe infections.
In CGD, immune system cells called phagocytes are unable to kill some types of bacteria and fungi. This disorder leads to long-term (chronic) and repeated (recurrent) infections. The condition is often discovered very early in childhood. Milder forms may be diagnosed during the teenage years, or even in adulthood.
Risk factors include a family history of recurrent or chronic infections.
About half of CGD cases are passed down through families as a sex-linked recessive trait. This means that boys are more likely to get the disorder than girls. The defective gene is carried on the X chromosome. Boys have 1 X chromosome and 1 Y chromosome. If a boy has an X chromosome with the defective gene, he may inherit this condition. Girls have 2 X chromosomes. If a girl has 1 X chromosome with the defective gene, the other X chromosome may have a working gene to make up for it. A girl has to inherit the defective X gene from each parent in order to have the disease.
CGD can cause many types of skin infections that are hard to treat, including:
CGD can also cause:
The health care provider will do an examination and may find:
There may be signs of a bone infection, which may affect many bones.
Tests that may be done include:
Antibiotics are used to treat the disease, and may also be used to prevent infections. A medicine called interferon-gamma may also help reduce the number of severe infections. Surgery may be needed to treat some abscesses.
The only cure for CGD is a bone marrow or stem cell transplant.
Long-term antibiotic treatments may help reduce infections, but early death can occur from repeated lung infections.
CGD may cause these complications:
If you or your child has this condition and you suspect pneumonia or another infection, call your provider right away.
Tell your provider if a lung, skin, or other infection does not respond to treatment.
Genetic counseling is recommended if you are planning to have children and you have a family history of this disease. Advances in genetic screening and increasing use of chorionic villus sampling (a test that may be done during a woman's 10th to 12th week of pregnancy) have made early detection of CGD possible. However, these practices are not yet widespread or fully accepted.
Reviewed By: Jatin M. Vyas, MD, PhD, Assistant Professor in Medicine, Harvard Medical School; Assistant in Medicine, Division of Infectious Disease, Department of Medicine, Massachusetts General Hospital, Boston, MA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.