ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era

Shinar Y., Ceccherini I., Rowczenio D., Aksentijevich I., Arostegui J., Ben-Chetrit E., ...Daha Fazla

CLINICAL CHEMISTRY, cilt.66, sa.4, ss.525-536, 2020 (SCI İndekslerine Giren Dergi) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 66 Konu: 4
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1093/clinchem/hvaa024
  • Sayfa Sayıları: ss.525-536


BACKGROUND: Monogenic autoinflammatory diseases are caused by pathogenic variants in genes that regulate innate immune responses, and are characterized by sterile systemic inflammatory episodes. Since symptoms can overlap within this rapidly expanding disease category, accurate genetic diagnosis is of the utmost importance to initiate early inflammation-targeted treatment and prevent clinically significant or life-threatening complications. Initial recommendations for the genetic diagnosis of autoinflammatory diseases were limited to a gene-by-gene diagnosis strategy based on the Sanger method, and restricted to the 4 prototypic recurrent fevers (MEFV, MVK, TNFRSFJA, and NLRP3 genes). The development of best practices guidelines integrating critical recent discoveries has become essential.