ABSTRACT
Chronic granulomatous disease is a primary immunodeficiency caused by mutations in the genes encoding subunits of the phagocytic NADPH oxidase system. Patients can present with severe, recurrent infections and noninfectious conditions. Among the latter, inflammatory manifestations are predominant, especially granulomas and colitis. In this article, we systematically review the possible mechanisms of hyperinflammation in this rare primary immunodeficiency condition and their correlations with clinical aspects.
Subject(s)
Humans , Granulomatous Disease, Chronic , NADPH Oxidases/genetics , Neutrophils/immunology , Granulomatous Disease, Chronic/genetics , Granulomatous Disease, Chronic/immunology , Granulomatous Disease, Chronic/microbiology , Inflammation Mediators/physiology , NADPH Oxidases/deficiency , Neutrophils/microbiology , Reactive Oxygen Species/immunology , Reactive Oxygen Species/metabolismABSTRACT
Chronic granulomatous disease is a primary immunodeficiency caused by mutations in the genes encoding subunits of the phagocytic NADPH oxidase system. Patients can present with severe, recurrent infections and noninfectious conditions. Among the latter, inflammatory manifestations are predominant, especially granulomas and colitis. In this article, we systematically review the possible mechanisms of hyperinflammation in this rare primary immunodeficiency condition and their correlations with clinical aspects.
