Patients with CGD have poorly-functioning phagocytes caused by mutations in one of four different genes. The abnormal genes cannot make proteins required for the production of oxygen byproducts, such as hydrogen peroxide and superoxide, which kill bacteria and fungi. It is critically important to see a doctor and get diagnosed early. It is also important for doctors to aggressively treat infections with prolonged high doses of antibiotics. To prolong infection-free periods, physicians often prescribe continuous preventive oral antibiotics, such as trimethoprim combined with sulfamethoxazole.
Abscesses often require surgical drainage.
The granulomas ultimately resolve with long-term antibiotic therapy. Steroids reduce the gastrointestinal and genitourinary tract obstructions. Patients with anemia may require whole blood transfusions. Patients have been treated successfully with bone marrow transplantation, and this may be an option if a suitable donor can be found. Gene therapy is under investigation.