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

Creative Commons License

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

CLINICAL CHEMISTRY, vol.66, no.4, pp.525-536, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 66 Issue: 4
  • Publication Date: 2020
  • Doi Number: 10.1093/clinchem/hvaa024
  • Journal Name: CLINICAL CHEMISTRY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Agricultural & Environmental Science Database, BIOSIS, Biotechnology Research Abstracts, CAB Abstracts, Chimica, CINAHL, EMBASE, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.525-536
  • Hacettepe University Affiliated: Yes

Abstract

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.