Chronic Granulomatous Disease (CGD)
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.
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).
Symptoms & Diagnosis
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.