Article
Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D.
Blood - 24 Nov 2011
Meeths Marie, Chiang Samuel C C, Wood Stephanie M, Entesarian Miriam, Schlums Heinrich, Bang Benedicte, Nordenskjöld Edvard, Björklund Caroline, Jakovljevic Gordana, Jazbec Janez, Hasle Henrik, Holmqvist Britt-Marie, Rajic Ljubica, Pfeifer Susan, Rosthøj Steen, Sabel Magnus, Salmi Toivo T, Stokland Tore, Winiarski Jacek, Ljunggren Hans-Gustaf, Fadeel Bengt, Nordenskjöld Magnus, Henter Jan-Inge, Bryceson Yenan T
Abstract excerpt
Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive, often-fatal hyperinflammatory disorder. Mutations in PRF1, UNC13D, STX11, and STXBP2 are causative of FHL2, 3, 4, and 5, respectively. In a majority of suspected FHL patients from Northern Europe, sequencing of exons and splice sites of such genes required for lymphocyte cytotoxicity revealed no or only monoallelic UNC13D mutations....
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