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Page 1
Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5).
Pagel J, Beutel K, Lehmberg K, Koch F, Maul-Pavicic A, Rohlfs AK, Al-Jefri A, Beier R, Bomme Ousager L, Ehlert K, Gross-Wieltsch U, Jorch N, Kremens B, Pekrun A, Sparber-Sauer M, Mejstrikova E, Wawer A, Ehl S, zur Stadt U, Janka G. Pagel J, et al. Among authors: janka g. Blood. 2012 Jun 21;119(25):6016-24. doi: 10.1182/blood-2011-12-398958. Epub 2012 Mar 26. Blood. 2012. PMID: 22451424 Free article.
Hemophagocytic syndromes--an update.
Janka GE, Lehmberg K. Janka GE, et al. Blood Rev. 2014 Jul;28(4):135-42. doi: 10.1016/j.blre.2014.03.002. Epub 2014 Mar 22. Blood Rev. 2014. PMID: 24792320 Review.
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.
zur Stadt U, Rohr J, Seifert W, Koch F, Grieve S, Pagel J, Strauss J, Kasper B, Nürnberg G, Becker C, Maul-Pavicic A, Beutel K, Janka G, Griffiths G, Ehl S, Hennies HC. zur Stadt U, et al. Among authors: janka g. Am J Hum Genet. 2009 Oct;85(4):482-92. doi: 10.1016/j.ajhg.2009.09.005. Am J Hum Genet. 2009. PMID: 19804848 Free PMC article.
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.
Rohr J, Beutel K, Maul-Pavicic A, Vraetz T, Thiel J, Warnatz K, Bondzio I, Gross-Wieltsch U, Schündeln M, Schütz B, Woessmann W, Groll AH, Strahm B, Pagel J, Speckmann C, Janka G, Griffiths G, Schwarz K, zur Stadt U, Ehl S. Rohr J, et al. Among authors: janka g. Haematologica. 2010 Dec;95(12):2080-7. doi: 10.3324/haematol.2010.029389. Epub 2010 Sep 7. Haematologica. 2010. PMID: 20823128 Free PMC article.
The minimum required level of donor chimerism in hereditary hemophagocytic lymphohistiocytosis.
Hartz B, Marsh R, Rao K, Henter JI, Jordan M, Filipovich L, Bader P, Beier R, Burkhardt B, Meisel R, Schulz A, Winkler B, Albert MH, Greil J, Karasu G, Woessmann W, Corbacioglu S, Gruhn B, Holter W, Kühl JS, Lang P, Seidel MG, Veys P, Löfstedt A, Ammann S, Ehl S, Janka G, Müller I, Lehmberg K. Hartz B, et al. Among authors: janka g. Blood. 2016 Jun 23;127(25):3281-90. doi: 10.1182/blood-2015-12-684498. Epub 2016 Apr 20. Blood. 2016. PMID: 27099148 Free PMC article.
169 results