Abstract

Chronic Granulomatous Disease (CGD) is a rare inherited primary immunodeficiency, characterized by recurrent bacterial and fungal infection. The outlook for patients with CGD has improved since it was first recognized in the 1950s but individuals still suffer significant morbidity and reduced life expectancy. Recent developments clarifying the role of neutrophil granule proteases and neutrophil extracellular traps in microorganism killing have contributed to our understanding of the susceptibility of CGD patients to infection. There have been developments in our understanding of the inflammatory component of CGD, in particular the similarities between CGD bowel disease and Crohns disease. There have been advances in treatment, in particular new antifungal agents. Large epidemiological studies have highlighted the many problems CGD patients suffer. With improved survival inflammatory complications of CGD have become more problematic, particularly gastro-intestinal disease. Poor growth is common. There have also been concerns about cognitive deficits in those with CGD. Hematopoeitic stem cell transplant provides complete cure and gene therapy holds hope for the future despite its current limitations. However, these curative measures are not without risk and families are often left with a dilemma regarding whether to opt for curative measures or remain on conservative management.

Keywords: Chronic granulomatous disease, NADPH, hematopoeitic stem cell transplant, gene therapy, Sulphamethoxazole-trimethoprim, Interferon gamma, HSCT, Corticosteroids, Inflammatory Manifestations