Chronic Granulomatous Disease (CGD)

What is chronic granulomatous disease (CGD)?

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. 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?

Patients with CGD have recurrent infections and may also develop autoinflammatory symptoms, especially of the gastrointestinal tract. Patients can be diagnosed by assessing their granulocytes’ ability to use oxygen (oxidative capacity) or by molecular gene analysis.

How is CGD treated at Stanford 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. Many patients do not have a healthy sibling, in which case an alternative donor, either an unrelated donor or a mismatched family donor, can be used.

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

Patients are usually discharged from the hospital 30 – 40 days after transplantation, when their blood and immune systems are working well enough to prevent infections.