Monogenic Inflammatory Bowel Disease: It's Never Too Late to Make a Diagnosis.

ABSTRACT: Background: More than 50 different monogenic disorders have been identified as directly causing inflammatory bowel diseases, typically manifesting in the first years of life. We present the clinical course and immunological work-up of an adult patient who presented in adolescent years with an atypical gastrointestinal phenotype and was diagnosed more than two decades later with a monogenic disorder with important therapeutic implications. Methods: Whole exome sequencing was performed in a 37-years-old patient with a history of diarrhea since adolescence. Sanger sequencing was used to validate the suspected variant. Mass cytometry (CyTOF) and flow cytometry were conducted on peripheral blood mononuclear cells for deep immunophenotyping. Next-generation sequencing of the TCR

SUBMITTER: Vardi I 

PROVIDER: S-EPMC7509434 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature