CGD Gene Mutation clinical trials

Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease

Background: - Chronic granulomatous disease (CGD) is an immunodeficiency disease in which white blood cells are unable to kill certain bacteria and fungi. People with CGD are more likely to develop recurrent life-threatening infections. Certain changes or mutations in genes contribute to the severity of CGD, and also appear to affect the success of treatment with interferon-gamma, a substance that is used to improve the immune system s ability to fight infection. Researchers are interested in studying changes in the immune system caused by interferon-gamma treatment of CGD in individuals with different mutations that cause CGD. Objectives: - To compare changes in the immune system caused by interferon-gamma treatment for CGD in individuals with different mutations that cause CGD. Eligibility: - Individuals of any age who have been diagnosed with CGD and have specific types of mutations that cause CGD (to be determined after testing). Design: - Participants will be screened with a medical history, physical examination, and blood and urine tests. Participants must weigh more than 11 kilograms (~24 pounds) to participate in the study. - Participants will receive injections of interferon-gamma once weekly for 4 weeks, twice weekly for 4 weeks, and then three times weekly for 4 weeks (a total of 24 injections). - Blood will be drawn periodically during treatment and for 8 weeks after the treatment, for a total of 21 weeks on the study. Participants will regularly provide information on their symptoms and responses to treatment to the study researchers.