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


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

The Journal of allergy and clinical immunology, vol.132, no.5, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 132 Issue: 5
  • Publication Date: 2013
  • Doi Number: 10.1016/j.jaci.2013.05.039
  • Journal Name: The Journal of allergy and clinical immunology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Keywords: Chronic granulomatous disease, dihydrorhodamine-1,2,3 assay, CYBB, CYBA, NCF1, NCF2, nicotinamide dinucleotide phosphate reduced oxidase, mean fluorescence intensity, stimulation index, TERM-FOLLOW-UP, MUTATIONS, FAMILIES, FEATURES, TURKEY
  • Bursa Uludag University Affiliated: Yes

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.