Mutations of chronic granulomatous disease in Turkish families

Köker M. Y., Sanal O., De Boer M., Tezcan I., Metin A., Ersoy F., ...Daha Fazla

EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, cilt.37, sa.7, ss.589-595, 2007 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 37 Sayı: 7
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1111/j.1365-2362.2007.01828.x
  • Dergi Adı: EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.589-595
  • Anahtar Kelimeler: chronic granulomatous disease, consanguineous marriages, DHR-123 assay, gp91-phox, NCF1, p47-phox
  • Erciyes Üniversitesi Adresli: Hayır

Özet

Background Chronic granulomatous disease (CGD) is an inherited disorder of the innate immune system characterized by impairment of intracellular microbicidal activity of phagocytes. Mutations in one of four known NADPH-oxidase components preclude generation of superoxide and related antimicrobial oxidants, leading to the phenotype of CGD. Defects in gp91-phox, encoded by CYBB, lead to X-linked CGD and have been reported to be responsible for approximately 70% of all CGD cases. The aim of this study was to identify the CGD mutations in a group of Turkish CGD patients and to evaluate the predominance of CGD mutations as X-linked or autosomal recessive (AR) within the Turkish CGD families with known mutations.