Case Report
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Apr 21, 2020; 26(15): 1841-1846
Published online Apr 21, 2020. doi: 10.3748/wjg.v26.i15.1841
Refractory very early-onset inflammatory bowel disease associated with cytosolic isoleucyl-tRNA synthetase deficiency: A case report
Andrew Fagbemi, William G Newman, Stuart G Tangye, Stephen M Hughes, Edmund Cheesman, Peter D Arkwright
Andrew Fagbemi, Department of Paediatric Gastroenterology, Royal Manchester Children’s Hospital, Manchester M199WL, United Kingdom
William G Newman, Department of Medical Genetics, Manchester University NHS Foundation Trust, Manchester M139WL, United Kingdom
William G Newman, Evolution and Genomic Sciences, University of Manchester, Manchester M139WL, United Kingdom
Stuart G Tangye, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia
Stuart G Tangye, St Vincent’s Clinical School, Faculty of Medicine, UNSW Australia, Sydney, NSW 2010, Australia
Stephen M Hughes, Peter D Arkwright, Department of Paediatric Allergy and Immunology, Royal Manchester Children’s Hospital, Manchester M139WL, United Kingdom
Edmund Cheesman, Department of Paediatric Histopathology, St Mary’s Hospital, Manchester M139WL, United Kingdom
Peter D Arkwright, Lydia Becker Institute of Immunology and Inflammation, University of Manchester, Manchester M139WL, United Kingdom
Author contributions: Arkwright PD and Newman WG led the study concept and design; all authors were involved in acquisition of data; Arkwright PD, Newman WG, Cheesman E and Tangye SG analysed and interpreted the data; Arkwright PD drafted the manuscript and all authors critically reviewed the manuscript.
Informed consent statement: Informed consent was obtained from the child’s parents for the publication of the report.
Conflict-of-interest statement: The authors have declared no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Corresponding author: Peter D Arkwright, MD, PhD, Senior Lecturer, Department of Paediatric Allergy and Immunology, Royal Manchester Children’s Hospital, Oxford Road, Manchester M139WL, United Kingdom.
Received: January 6, 2020
Peer-review started: January 6, 2020
First decision: January 19, 2020
Revised: March 26, 2020
Accepted: April 1, 2020
Article in press: April 1, 2020
Published online: April 21, 2020
Core Tip

Core tip: Consider cytosolic isoleucyl-tRNA synthetase in children presenting with neonatal hepatitis and refractory very early-onset inflammatory bowel disease. This case report provides evidence for a novel monogenic cause of inflammatory bowel disease that should be considered, particularly in patients with very early-onset, poor response to treatment and a history of neonatal hepatitis.