Chronic granulomatous disease (CGD) is a genetic disorder in which white blood cells called phagocytes are unable to kill certain bacteria and fungi. People with CGD have increased susceptibility to infections caused by certain types of bacteria and fungi, such as Staphylococcus aureus, Serratia marcescens, Burkholderia cepacia, Nocardia species, and Aspergillus species.
Why Is the Study of Chronic Granulomatous Disease (CGD) a Priority for NIAID?
CGD is a rare genetic disease that may be chronic, debilitating, and costly. By learning more about this disease and its effects on the body, scientists gain a greater understanding of immune function that can inform multiple areas of research.
How Is NIAID Addressing This Critical Topic?
NIAID scientists are exploring gene therapy approaches to address the underlying genetic defects that cause CGD. NIAID also supports the development of antifungal drugs and other therapies to stem infections and improve outcomes for children with CGD.
CGD is a primary immune deficiency disease (PIDD). For more information on PIDD research and patient care at NIAID, visit the NIAID PIDD site.
To learn about risk factors for CGD and current management and treatment strategies visit the National Library of Medicine, Genetics Home Reference chronic granulomatous disease site.
CGD is caused by defects in an enzyme called NAPDH oxidase that phagocytes need to kill bacteria and fungi. Mutations in one of five different genes can cause this defect, which leads to frequent and sometimes life-threatening infections of the skin, lungs, liver, and bones, with accumulations of inflammatory cells called abscesses (boils) or granulomas (inflamed masses of tissue).
CGD may be suspected in children or adults with the abscesses that involve the lungs, liver, spleen, bones, or skin; infections caused by germs that are not usually harmful, such as fungi or Nocardia; and granulomas (tissue masses that can obstruct the bowel or urinary tract and complicate wounds). In some people, granulomas can cause an inflammatory bowel disease.
The key to managing CGD is early diagnosis and treatment with appropriate medications. The goal is to prevent infections and complications. Antibiotics are taken throughout life help prevent bacterial infections, and antifungals are taken throughout life help prevent fungal infections. Injections with interferon gamma, a protein that improves the activity of phagocytes, may also be helpful. Abscesses need aggressive care, which may include surgery. Granulomas may require steroid therapy. Some people have been treated successfully with bone marrow transplantation.
A Step Closer to Personalized Medicine, Improving Gene Therapy To Treat a Devastating Genetic Disease
Recent advances in adult stem cell research could change the way doctors treat a host of debilitating diseases. At NIAID, scientists are exploring novel ways to convert adult tissue into more primitive stem cells and then use these cells to treat chronic granulomatous disease (CGD), an inherited disease of the immune system.