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


KÖKER M. Y. , Camcioglu Y. , van Leeuwen K., KILIÇ S. Ş. , Barlan I., YILMAZ M., et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, cilt.132, ss.1156-1168, 2013 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 132 Konu: 5
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1016/j.jaci.2013.05.039
  • Dergi Adı: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
  • Sayfa Sayısı: ss.1156-1168

Özet

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.