Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study


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Charbit-Henrion F., Parlato M., Hanein S., Duclaux-Loras R., Nowak J., Begue B., ...More

JOURNAL OF CROHNS & COLITIS, vol.12, no.9, pp.1104-1112, 2018 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 12 Issue: 9
  • Publication Date: 2018
  • Doi Number: 10.1093/ecco-jcc/jjy068
  • Title of Journal : JOURNAL OF CROHNS & COLITIS
  • Page Numbers: pp.1104-1112
  • Keywords: Genetics and molecular epidemiology, paediatrics, VEO-IBD, monogenic disorders, TNGS, X-LINKED INHIBITOR, IMMUNE DYSREGULATION, GERMLINE MUTATIONS, EVOLVING WEB, GENE, ENTEROPATHY, IMMUNODEFICIENCY, DISORDERS, IL10

Abstract

Background and Aims: An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment.