Guidelines for the genetic diagnosis of hereditary recurrent fevers

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Shinar Y., Obici L., Aksentijevich I., Bennetts B., Austrup F., Ceccherini I., ...Daha Fazla

ANNALS OF THE RHEUMATIC DISEASES, cilt.71, sa.10, ss.1599-1605, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 71 Sayı: 10
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1136/annrheumdis-2011-201271
  • Dergi Adı: ANNALS OF THE RHEUMATIC DISEASES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1599-1605
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Hereditary recurrent fevers (HRFs) are a group of monogenic autoinflammatory diseases characterised by recurrent bouts of fever and serosal inflammation that are caused by pathogenic variants in genes important for the regulation of innate immunity. Discovery of the molecular defects responsible for these diseases has initiated genetic diagnostics in many countries around the world, including the Middle East, Europe, USA, Japan and Australia. However, diverse testing methods and reporting practices are employed and there is a clear need for consensus guidelines for HRF genetic testing.