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 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 132 Issue: 5
  • Publication Date: 2013
  • Doi Number: 10.1016/j.jaci.2013.05.039
  • Title of Journal : JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
  • Page Numbers: pp.1156-1168

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.