Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease
Brigitte Bader‐Meunier, A. Martins, Fabienne Charbit‐Henrion, Ulrich Meinzer, Alexandre Bélot, Laurence Cuisset, Albert Faye, Sophie Georgin‐Lavialle, Pierre Quartier, Vanessa Rémy-Piccolo, Frank M. Ruemmele, Florence Uettwiller, Jérôme Viala, Nadine Cerf–Bensussan, Dominique Berrebi, Isabelle Melki
Abstract
Mevalonate kinase deficiency should be considered in patients with severe very-early-onset inflammatory bowel disease (IBD), especially in patients with a history of recurrent or chronic fever, peritoneal adhesions, and atypical IBD pathology. Anti-interleukin-1 therapy may be efficacious in these patients with monogenic very-early-onset IBD.
Topics & Concepts
MedicineInflammatory bowel diseaseDiseaseGastroenterologyInflammatory Bowel DiseasesUlcerative colitisInternal medicineImmunologyInflammasome and immune disordersWhipple's Disease and InterleukinsAutoimmune and Inflammatory Disorders Research