Guidelines for the genetic diagnosis of hereditary recurrent fevers

Shinar, Y.; Obici, L.; Aksentijevich, I.; Bennetts, B.; Austrup, F.; Ceccherini, I.; Costa, J.; De Leener, A.; Gattorno, M.; Kania, U.; Kone-Paut, I.; Lezer, S.; Livneh, A.; Moix, I.; Nishikomori, R.; Ozen, S.; Phylactou, L.; Risom, L.; Rowczenio, D.; Sarkisian, T.; van Gijn, M.; Witsch-Baumgartner, M.; Morris, M.; Hoffman, H.; Touitou, I.

doi:10.1136/annrheumdis-2011-201271

Guidelines for the genetic diagnosis of hereditary recurrent fevers

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, Scopus)

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
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
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.