Article
Monogenic Inflammatory Bowel Disease: It's Never Too Late to Make a Diagnosis.
Frontiers in immunology - 1 Jan 2020
Vardi Iddo, Chermesh Irit, Werner Lael, Barel Ortal, Freund Tal, McCourt Collin, Fisher Yael, Pinsker Marina, Javasky Elisheva, Weiss Batia, Rechavi Gideon, Hagin David, Snapper Scott B, Somech Raz, Konnikova Liza, Shouval Dror S
Abstract excerpt
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...
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