Chronic Granulomatous Disease

Pathophysiology:
CGD was first described by Dr Charles Jane way and colleagues from Boston Children’s Hospital at the 64th Annual Meeting of the American Pediatric Society in 1954. Chronic granulomatous disease (CGD) is a rare congenital immune deficiency caused by mutations in any of the five genes encoding NADPH oxidase subunits. One of these genes is NCF1, encoding the p47phox protein. Defects in one of the four essential subunits of phagocyte NADPH oxidase (PHOX) can all cause CGD of varying severity, dependent on the defect. There are over 410 known possible defects in the PHOX enzyme complex that can lead to chronic granulomatous disease.

Treatment:
Early diagnosis and treatment can significantly improve the prognosis. Modern therapy for chronic granulomatous disease (CGD) which includes aggressive and prolonged administration of antibiotics and prednisone. Treatment for inflammatory and autoimmune complications in patients with CGD is problematic because most agents are immune suppressive and immunity is already impaired in patients with CGD.

Major research on disease:
Gene therapy is currently being studied as a possible treatment for chronic granulomatous disease and which can study by mutation of single gene which in turn only one system of the body and viral therapy which has been served as vector to study the mutation of single gene. Statistics are: Australian prevalence or incidence statistics, which are then extrapolated using only the population of the other country which constitute that 4 out of 19,913,144 population reported with chronic granulomatous disease.