Article
Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations.
Pediatric blood & cancer - 1 Jul 2013
Stepensky Polina, Bartram Jack, Barth Thomas F, Lehmberg Kai, Walther Paul, Amann Kerstin, Philips Alan D, Beringer Ortraud, Zur Stadt Udo, Schulz Ansgar, Amrolia Persis, Weintraub Michael, Debatin Klaus-Michael, Hoenig Manfred, Posovszky Carsten
Abstract excerpt
BACKGROUND: Familial hemophagocytic lymphohistiocytosis (FHL) is a rare primary immune disorder defined by mutations in the syntaxin binding protein 2 (STXBP2) alias MUNC18-2. Despite defective immunity and a hyper-inflammatory state, clinical findings such as neurological, gastrointestinal, and bleeding disorders are present in a significant number of patients and suggest an impaired expression and function of...
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