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., ...Daha Fazla

The Journal of allergy and clinical immunology, cilt.132, sa.5, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 132 Sayı: 5
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1016/j.jaci.2013.05.039
  • Dergi Adı: The Journal of allergy and clinical immunology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: 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 Uludağ Üniversitesi Adresli: Evet

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.