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Refractory very early-onset inflammatory bowel disease associated with cytosolic isoleucyl-tRNA synthetase deficiency:A case report

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World Journal of gastroenterology 2020年第15期26卷 1841-1846页

作者： Andrew Fagbemi William g Newman stuart g tangye Stephen M Hughes Edmund Cheesman Peter D Arkwright Department of Paediatric gastroenterology Royal Manchester Children’s HospitalManchester M199WLUnited Kingdom Department of Medical genetics Manchester University NHS Foundation TrustManchester M139WLUnited Kingdom Evolution and genomic Sciences University of ManchesterManchester M139WLUnited Kingdom garvan Institute of Medical Research DarlinghurstNSW 2010Australia St Vincent’s Clinical School Faculty of MedicineUNSW AustraliaSydneyNSW 2010Australia Department of Paediatric Allergy and Immunology Royal Manchester Children’s HospitalManchester M139WLUnited Kingdom Department of Paediatric Histopathology St Mary’s HospitalManchester M139WLUnited Kingdom Lydia Becker Institute of Immunology and Inflammation University of ManchesterManchester M139WLUnited Kingdom

BACKgROUND Aminoacyl tRNA synthetases/ligases(ARSs)are highly conserved enzymes involved in attaching amino acids to tRNA promoting protein *** deficiencies of ARSs localized to the mitochondria classically present with neuropathology,the clinical features of cytosolic ARS deficiencies are more *** have previously been associated with neonatal hepatitis,but never with early-onset inflammatory bowel *** SUMMARY A nine-year-old Bangladeshi boy presented with neonatal liver failure and deranged clotting,transaminitis and *** parents were first *** older brothers and a sister were *** patient suffered from loose stools from early infancy which became more troublesome and persistent from five years old with ten bloody motions a *** endoscopies showed persistent pancolitis,which was refractory to mesalazine,corticosteroids,azathioprine,sirolimus and anti-TNF(adalimumab)therapy,but has improved recently with subcutaneous *** genome Sequencing revealed a novel pathogenic missense variant(c.290A>g)in the cytosolic isoleucyl-tRNA synthetase gene,leading to an amino acid substitution(***97gly).Pathogenic variants in other genes associated with inflammatory bowel disease(IBD)(ADAM17,EgFR,FOXP3,IL10RA,IL10RB,IL21R,NCF4,STAT3)were *** assays demonstrated markedly elevated IL-2,IL-5,IL-13,IL-9 and IL-10 by the patient’s CD4+T-cells,while IL-17A,IL-17F,IFNβwere lower,and TNFαnot significantly different when compared to healthy *** This case report provides evidence that recessive mutations in cytosolic isoleucyltRNA synthetase are a novel monogenic cause of IBD,which should be considered,particularly in infants and children with a history of neonatal hepatitis and very early-onset IBD poorly responsive to treatment.

关键词： Inflammatory bowel disease Hepatitis gene Cytosolic isoleucine tRNA synthase

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