Monogenic IBD: It's Never Too Late to Make a Diagnosis

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.