Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel Disease

Abstract Background and Aims Over 80 monogenic causes of very early onset inflammatory bowel disease [VEOIBD] have been identified. Prior reports of the natural history of VEOIBD have not considered monogenic disease status. The objective of this study is to describe clinical phenotypes and outcomes...

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Veröffentlicht in:Journal of Crohn's and colitis 2022-09, Vol.16 (9), p.1380-1396
Hauptverfasser: Collen, Lauren V, Kim, David Y, Field, Michael, Okoroafor, Ibeawuchi, Saccocia, Gwen, Whitcomb, Sydney Driscoll, Green, Julia, Dong, Michelle Dao, Barends, Jared, Carey, Bridget, Weatherly, Madison E, Rockowitz, Shira, Sliz, Piotr, Liu, Enju, Eran, Alal, Grushkin-Lerner, Leslie, Bousvaros, Athos, Muise, Aleixo M, Klein, Christoph, Mitsialis, Vanessa, Ouahed, Jodie, Snapper, Scott B
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Sprache:eng
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Zusammenfassung:Abstract Background and Aims Over 80 monogenic causes of very early onset inflammatory bowel disease [VEOIBD] have been identified. Prior reports of the natural history of VEOIBD have not considered monogenic disease status. The objective of this study is to describe clinical phenotypes and outcomes in a large single-centre cohort of patients with VEOIBD and universal access to whole exome sequencing [WES]. Methods Patients receiving IBD care at a single centre were prospectively enrolled in a longitudinal data repository starting in 2012. WES was offered with enrollment. Enrolled patients were filtered by age of diagnosis
ISSN:1873-9946
1876-4479
DOI:10.1093/ecco-jcc/jjac045