Diagnostic Approach to Monogenic Inflammatory Bowel Disease in Clinical Practice: A Ten-Year Multicentric Experience.

Inflammatory Bowel Diseases
Sara LegaMatteo Bramuzzo

Abstract

Multiple monogenic disorders present as very early onset inflammatory bowel disease (VEO-IBD) or as IBD with severe and atypical features. Establishing a genetic diagnosis may change patients' management and prognosis. In this study, we describe the diagnostic approach to suspected monogenic IBD in a real clinical setting, discussing genetic and phenotypic findings and therapeutic implications of molecular diagnosis. Information of patients with VEO-IBD and early onset IBD with severe/atypical phenotypes (EO-IBD s/a) managed between 2008-2017 who underwent a genetic workup were collected. Ninety-three patients were included, and 12 (13%) reached a genetic diagnosis. Candidate sequencing (CS) was performed in 47 patients (50%), and next generation sequencing (NGS) was performed in 84 patients (90%). Candidate sequencing had a good diagnostic performance only when guided by clinical features specific for known monogenic diseases, whereas NGS helped finding new causative genetic variants and would have anticipated one monogenic diagnosis (XIAP) and consequent bone marrow transplant (BMT). Patients with monogenic IBD more frequently were male (92% vs 54%; P = 0.02), had extraintestinal findings (100% vs 34%; P < 0.001), and had dis...Continue Reading

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Citations

Aug 22, 2020·Expert Review of Clinical Immunology·Ivan K Chinn, Jordan S Orange
Oct 6, 2020·Frontiers in Immunology·Iddo VardiDror S Shouval
Sep 2, 2020·Current Opinion in Gastroenterology·Mirjam Bueno de Mesquita, Dror S Shouval
Dec 2, 2020·Journal of Personalized Medicine·Gregor JezernikUroš Potočnik
Feb 9, 2021·Frontiers in Pediatrics·Ryusuke Nambu, Aleixo M Muise
Nov 17, 2020·Digestive Diseases and Sciences·Youyou LuoJie Chen
Mar 2, 2021·Frontiers in Pediatrics·Anastasia KonidariMunir Pirmohamed
Mar 16, 2021·Frontiers in Immunology·Valentina BozMatteo Bramuzzo
Jul 10, 2021·Immunology·Egle Kvedaraite
Aug 5, 2021·Journal of Crohn's & Colitis·Roger FeakinsMonika Tripathi

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