Article
Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.
Blood - 14 Oct 2010
Meeths Marie, Entesarian Miriam, Al-Herz Waleed, Chiang Samuel C C, Wood Stephanie M, Al-Ateeqi Wafa, Almazan Francisco, Boelens Jaap J, Hasle Henrik, Ifversen Marianne, Lund Bendik, van den Berg J Merlijn, Gustafsson Britt, Hjelmqvist Hans, Nordenskjöld Magnus, Bryceson Yenan T, Henter Jan-Inge
Abstract excerpt
Hemophagocytic lymphohistiocytosis (HLH) is an often-fatal hyperinflammatory syndrome characterized by fever, hepatosplenomegaly, cytopenia, and in some cases hemophagocytosis. Here, we describe the mutation analysis, clinical presentation, and functional analysis of natural killer (NK) cells in patients with mutations in STXBP2 encoding Munc18-2, recently associated with familial HLH type 5. The disease severity...
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