Chronic Granulomatous Disease in Childhood

Cecilia      Barese; W.   S.   Goebel

Abstract

Chronic granulomatous disease (CGD) is a genetic immunodeficiency that commonly presents in infancy and early childhood. Currently, life expectancy is beyond the fourth decade of life if the disease is promptly diagnosed and treated. CGD is characterized by increased susceptibility to recurrent and often life-threatening infections caused by bacteria and fungi. The hallmark of the disease is the formation of inflammatory granulomas, which can cause obstruction of the hollow viscera. Therapeutic management of CGD patients relies on the early and aggressive treatment of acute infections, as well as lifelong antibiotic and antifungal prophylaxis. Interferon gamma has a role in the prevention and management of intractable infections. Current efforts for the development of curative therapies focus on allogeneic bone marrow transplantation for CGD patients with HLA-identical sibling donors, and transplantation of autologous genecorrected hematopoietic stem cells for patients who lack suitable marrow donors. Significant recent achievements in these fields provide a realistic hope for a lifelong cure of CGD.

Keywords: Chronic granulomatous disease, CGD, inflammation, primary immunodeficiency, phagocyte defect, recurrent infections

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