Article
Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.
Gut - 1 Jun 2017
Schwerd Tobias, Pandey Sumeet, Yang Huei-Ting, Bagola Katrin, Jameson Elisabeth, Jung Jonathan, Lachmann Robin H, Shah Neil, Patel Smita Y, Booth Claire, Runz Heiko, Düker Gesche, Bettels Ruth, Rohrbach Marianne, Kugathasan Subra, Chapel Helen, Keshav Satish, Elkadri Abdul, Platt Nick, Muise Alexio M, Koletzko Sibylle, Xavier Ramnik J, Marquardt Thorsten, Powrie Fiona, Wraith James E, Gyrd-Hansen Mads, Platt Frances M, Uhlig Holm H
Abstract excerpt
OBJECTIVE: Patients with Niemann-Pick disease type C1 (NPC1), a lysosomal lipid storage disorder that causes neurodegeneration and liver damage, can present with IBD, but neither the significance nor the functional mechanism of this association is clear. We studied bacterial handling and antibacterial autophagy in patients with NPC1. DESIGN: We characterised intestinal inflammation in 14 patients with NPC1 who...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.