Open AccessRefractory very early-onset inflammatory bowel disease associated with cytosolic isoleucyl-tRNA synthetase deficiency: A case report
Author(s) -
Andrew Fagbemi,
William G. Newman,
Stuart G. Tangye,
Stephen Hughes,
Edmund Cheesman,
Peter D. Arkwright
Publication year - 2020
Publication title -
world journal of gastroenterology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.427
H-Index - 155
eISSN - 2219-2840
pISSN - 1007-9327
DOI - 10.3748/wjg.v26.i15.1841
Subject(s) - thiopurine methyltransferase , medicine , inflammatory bowel disease , pancolitis , immunology , biology , gastroenterology , disease , cancer , colorectal cancer , colonoscopy
Aminoacyl tRNA synthetases/ligases (ARSs) are highly conserved enzymes involved in attaching amino acids to tRNA promoting protein synthesis. Although deficiencies of ARSs localized to the mitochondria classically present with neuropathology, the clinical features of cytosolic ARS deficiencies are more variable. They have previously been associated with neonatal hepatitis, but never with early-onset inflammatory bowel disease.