Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function Mutation

Severe enterocolitis raises diagnostic and therapeutic challenges. Empirical treatment by steroids and immunosuppressive drugs is commonly used but, to date, little attempt has been made to specifically target the mechanism underlying inflammation. Possible causes of severe enterocolitis include refractory celiac disease,1 autoimmune enteropathy,2 and common variable immunodeficiency,3 the 2 latter being overlapping entities of possible monogenic inheritance. Besides FOXP3 mutations that cause immune dysregulation polyendocrinopathy X-linked syndrome,4 additional genetic causes have recently been reported.

Source: Gastroenterology - December 15, 2018 Category: Gastroenterology Authors: Marianna Parlato, Fabienne Charbit-Henrion, Elie Abi Nader, Bernadette Begue, Nicolas Guegan, Julie Bruneau, Sh érine Khater, Elizabeth Macintyre, Capucine Picard, F. Rieux-Laucat, Lionel Le Bourhis, Matthieu Allez, Olivier Goulet, Christophe Cellier, Ol Tags: Brief Communication Source Type: research