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


Koker M. Y. , Metin A.

The Journal of allergy and clinical immunology, vol.132, no.5, 2013 (Journal Indexed in 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
  • Title of Journal : The Journal of allergy and clinical immunology
  • 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

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.