Chronic Granulomatous Disease

摘要: Chronic granulomatous disease (CGD) is an inherited primary immunodeficiency due to mutations in any of the critical subunits phagocyte NADPH oxidase complex, resulting impaired activity neutrophils, monocytes, and tissue macrophages. It characterized by increased susceptibility recurrent severe infections with a narrow pathognomonic spectrum bacteria fungi, granuloma formation, inflammatory disease, primarily gastrointestinal tract, lungs, liver. Inflammatory CGD difficult predict often refractory therapy. Patients also have incidence autoimmune including lupus-like symptoms, sarcoidosis, IgA nephropathy, rheumatoid arthritis, other manifestations. With increasing awareness widespread use antimicrobial prophylaxis, advancements hematopoietic stem cell transplantation (HSCT), outcomes improved dramatically many patients now live well into adulthood. HSCT only widely available definitive treatment for potential resolution both infectious complications. Overall survival rates are consistently near or >90% pediatric less than 14 years regardless donor source, improving adolescents young adults, those infection and/or uncontrolled at time transplantation. Early results from gene therapy trials demonstrated phenotype, although long-term unknown.