Ontology highlight
ABSTRACT:
SUBMITTER: Vogel GF
PROVIDER: S-EPMC5518552 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
Vogel Georg F GF van Rijn Jorik M JM Krainer Iris M IM Janecke Andreas R AR Posovszky Carsten C Cohen Marta M Searle Claire C Jantchou Prevost P Escher Johanna C JC Patey Natalie N Cutz Ernest E Müller Thomas T Middendorp Sabine S Hess Michael W MW Huber Lukas A LA
JCI insight 20170720 14
Familial hemophagocytic lymphohistiocytosis 5 (FHL5) is an autosomal recessive disease caused by mutations in STXBP2, coding for Munc18-2, which is required for SNARE-mediated membrane fusion. FHL5 causes hematologic and gastrointestinal symptoms characterized by chronic enteropathy that is reminiscent of microvillus inclusion disease (MVID). However, the molecular pathophysiology of FHL5-associated diarrhea is poorly understood. Five FHL5 patients, including four previously unreported patients, ...[more]