Chronic granulomatous disease: complications and management

Abstract

Chronic granulomatous disease (CGD) is a genetically heterogenous primary immunodeficiency caused by defects in the nicotinamide adenine dinucleotide phosphate oxidase system. This metabolic pathway is responsible for the generation of reactive oxygen species during the respiratory burst, and is associated with germ killing and inflammatory reactions. CGD patients typically suffer from two types of clinical manifestation: recurrent bacterial and fungal infections, and dysregulated granulomata formation. Early diagnosis, antimicrobial prophylaxis and aggressive management of infectious complications are the cornerstones of CGD management. These three measures have strikingly improved the life expectancy and quality of life of CGD patients in the last 50 years. Very encouraging and promising results have been recently achieved, with definitive and curative options for this disease now available.