Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients

MY Köker, Y Camcıoğlu, K Van Leeuwen… - Journal of allergy and …, 2013 - Elsevier
Background Chronic granulomatous disease (CGD) is a rare primary immunodeficiency
disorder of phagocytes resulting in impaired killing of bacteria and fungi. A mutation in one
of the 4 genes encoding the components p22 phox, p47 phox, p67 phox, and p40 phox of
the leukocyte nicotinamide dinucleotide phosphate reduced (NADPH) oxidase leads to
autosomal recessive (AR) CGD. A mutation in the CYBB gene encoding gp91 phox leads to
X-linked recessive CGD. Objective The aim of this study is to show the correlation between …