Mycobacterial disease in patients with chronic granulomatous disease

Abstract

Chronic granulomatous disease (CGD) is an inborn error of immunity that affects the functionality of phagocytosis; specifically, there's lack of production of oxygen-free radicals by NADPH oxidase. CGD manifests as severe and recurring bacterial and fungal infections, as well as local and systemic hyperinflammation. In countries where tuberculosis is endemic and the BCG vaccine is mandatory at birth, patients with CGD may present local or systemic reactions to this vaccine as first manifestation; besides, recurrent infections by M. tuberculosis may be present throughout their life. The susceptibility of these patients to mycobacteria is due to the excessive production of pro-inflammatory cytokines and the formation of granulomas that are inefficient in containing mycobacteria. In developed countries, patients with CGD do not present this type of infectious manifestations, except for migrants who come from developing countries. In this review, we present the characteristics of infections by BCG, M. tuberculosis, and other types of mycobacteria. Interestingly, there are no guidelines regarding anti-tuberculosis treatments in patients with CGD, so we propose the realization of a consensus by experts in order to establish guidelines for the treatment of mycobacterial disease in CGD.