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


KÖKER M. Y., Camcioglu Y., van Leeuwen K., Kilic S. S., Barlan I., YILMAZ M., ...More

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol.132, no.5, pp.1156-1168, 2013 (SCI-Expanded) identifier identifier identifier

Abstract

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.