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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: beutel k. 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.
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: beutel k. Haematologica. 2010 Dec;95(12):2080-7. doi: 10.3324/haematol.2010.029389. Epub 2010 Sep 7. Haematologica. 2010. PMID: 20823128 Free PMC article.
Malignancy-associated haemophagocytic lymphohistiocytosis in children and adolescents.
Lehmberg K, Sprekels B, Nichols KE, Woessmann W, Müller I, Suttorp M, Bernig T, Beutel K, Bode SF, Kentouche K, Kolb R, Längler A, Minkov M, Schilling FH, Schmid I, Vieth S, Ehl S, Zur Stadt U, Janka GE. Lehmberg K, et al. Among authors: beutel k. Br J Haematol. 2015 Aug;170(4):539-49. doi: 10.1111/bjh.13462. Epub 2015 May 4. Br J Haematol. 2015. PMID: 25940575 Free article. Clinical Trial.
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.
Sieni E, Cetica V, Santoro A, Beutel K, Mastrodicasa E, Meeths M, Ciambotti B, Brugnolo F, zur Stadt U, Pende D, Moretta L, Griffiths GM, Henter JI, Janka G, Aricò M. Sieni E, et al. Among authors: beutel k. J Med Genet. 2011 May;48(5):343-52. doi: 10.1136/jmg.2010.085456. Epub 2011 Jan 19. J Med Genet. 2011. PMID: 21248318 Free PMC article.
61 results