Chronic Granulomatous Disease

What is chronic granulomatous disease?

Chronic granulomatous disease (CGD) is a genetic immune deficiency in which granulocytes, a type of white blood cells, are unable to effectively kill some organisms, resulting in recurrent infections and autoinflammatory symptoms, such as fever, rashes, or swollen joints. The most severe form occurs as an X-linked disease in males, while a less severe recessive form is found in both males and females.

What are the symptoms of CGD, and how is it diagnosed?

If your child has CGD, he or she may have recurrent infections and may also develop autoinflammatory symptoms, especially of the gastrointestinal tract. Doctors will diagnose CGD in your child by assessing his or her granulocytes’ ability to use oxygen (oxidative capacity) or by molecular gene analysis.

How is CGD treated at Stanford Medicine Children’s Health?

Antibiotics and/or interferon gamma, a protein that mimics the protein that the body makes to fight infections, can reduce the risk of infections and inflammation.

Severe cases of CGD can be cured using stem cell transplantation. A matched donor is ideal, usually a healthy sibling. If your child does not have a healthy sibling, an alternative donor, either an unrelated donor or a mismatched family donor, can be used.

Because of the autoinflammatory symptoms associated with CGD, getting the donor stem cells to engraft may be difficult, requiring the use of more-intense pretransplant chemotherapy than used in patients with other conditions.

Your child will likely be discharged from the hospital 30–40 days after transplantation, when his or her blood and immune systems are working well enough to prevent infections.