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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.
Am J Hum Genet. 2009 Oct;85(4):482-92.
Hemophagocytic lymphohistiocytosis: when the immune system runs amok.
Janka G.
Klin Padiatr. 2009 Sep;221(5):278-85. Epub 2009 Aug 25. Review.
Molecular analysis and clinical aspects of four patients with Chédiak-Higashi syndrome (CHS).
Scherber E, Beutel K, Ganschow R, Schulz A, Janka G, Stadt U.
Clin Genet. 2009 Oct;76(4):409-12. Epub 2007 Jul 24.
Hemophagocytic lymphohistiocytosis and Kawasaki disease: combined manifestation and differential diagnosis.
Titze U, Janka G, Schneider EM, Prall F, Haffner D, Classen CF.
Pediatr Blood Cancer. 2009 Sep;53(3):493-5.
Infection of T lymphocytes in Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in children of non-Asian origin.
Beutel K, Gross-Wieltsch U, Wiesel T, Stadt UZ, Janka G, Wagner HJ.
Pediatr Blood Cancer. 2009 Aug;53(2):184-90.
Frequency and spectrum of central nervous system involvement in 193 children with haemophagocytic lymphohistiocytosis.
Horne A, Trottestam H, Aricò M, Egeler RM, Filipovich AH, Gadner H, Imashuku S, Ladisch S, Webb D, Janka G, Henter JI; Histiocyte Society.
Br J Haematol. 2008 Feb;140(3):327-35. Epub 2007 Dec 10.
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.
Trizzino A, zur Stadt U, Ueda I, Risma K, Janka G, Ishii E, Beutel K, Sumegi J, Cannella S, Pende D, Mian A, Henter JI, Griffiths G, Santoro A, Filipovich A, Aricò M; Histiocyte Society HLH Study group.
J Med Genet. 2008 Jan;45(1):15-21. Epub 2007 Sep 14.
Hemophagocytic syndromes.
Janka GE.
Blood Rev. 2007 Sep;21(5):245-53. Epub 2007 Jun 21. Review.
HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.
Henter JI, Horne A, Aricó M, Egeler RM, Filipovich AH, Imashuku S, Ladisch S, McClain K, Webb D, Winiarski J, Janka G.
Pediatr Blood Cancer. 2007 Feb;48(2):124-31.
Familial and acquired hemophagocytic lymphohistiocytosis.
Janka GE.
Eur J Pediatr. 2007 Feb;166(2):95-109. Epub 2006 Dec 7. Review.
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.
Zur Stadt U, Beutel K, Kolberg S, Schneppenheim R, Kabisch H, Janka G, Hennies HC.
Hum Mutat. 2006 Jan;27(1):62-8.
Familial and acquired hemophagocytic lymphohistiocytosis.
Janka G, zur Stadt U.
Hematology Am Soc Hematol Educ Program. 2005:82-8.
Hemophagocytic lymphohistiocytosis.
Janka GE.
Hematology. 2005;10 Suppl 1:104-7. Review.
Subtyping of natural killer cell cytotoxicity deficiencies in haemophagocytic lymphohistocytosis provides therapeutic guidance.
Horne A, Zheng C, Lorenz I, Löfstedt M, Montgomery SM, Janka G, Henter JI, Marion Schneider E.
Br J Haematol. 2005 Jun;129(5):658-66.
Haematopoietic stem cell transplantation in haemophagocytic lymphohistiocytosis.
Horne A, Janka G, Maarten Egeler R, Gadner H, Imashuku S, Ladisch S, Locatelli F, Montgomery SM, Webb D, Winiarski J, Filipovich AH, Henter JI; Histiocyte Society.
Br J Haematol. 2005 Jun;129(5):622-30.
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.
zur Stadt U, Schmidt S, Kasper B, Beutel K, Diler AS, Henter JI, Kabisch H, Schneppenheim R, Nürnberg P, Janka G, Hennies HC.
Hum Mol Genet. 2005 Mar 15;14(6):827-34. Epub 2005 Feb 9.
Modern management of children with haemophagocytic lymphohistiocytosis.
Janka GE, Schneider EM.
Br J Haematol. 2004 Jan;124(1):4-14. Review.
Rapid LightCycler assay for identification of the perforin codon 374 Trp --> stop mutation in patients and families with hemophagocytic lymphohistiocytosis (HLH).
zur Stadt U, Kabisch H, Janka G, Schneider EM.
Med Pediatr Oncol. 2003 Jul;41(1):26-9.
Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation.
Henter JI, Samuelsson-Horne A, Aricò M, Egeler RM, Elinder G, Filipovich AH, Gadner H, Imashuku S, Komp D, Ladisch S, Webb D, Janka G; Histocyte Society.
Blood. 2002 Oct 1;100(7):2367-73.
Prenatal diagnosis of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHLH).
zur Stadt U, Pruggmayer M, Jung H, Henter JI, Schneider M, Kabisch H, Janka G.
Prenat Diagn. 2002 Jan;22(1):80-1.
Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis.
Clementi R, zur Stadt U, Savoldi G, Varoitto S, Conter V, De Fusco C, Notarangelo LD, Schneider M, Klersy C, Janka G, Danesino C, Aricò M.
J Med Genet. 2001 Sep;38(9):643-6.
Familial hemophagocytic lymphohistiocytosis: how late can the onset be?
Allen M, De Fusco C, Legrand F, Clementi R, Conter V, Danesino C, Janka G, Aricò M.
Haematologica. 2001 May;86(5):499-503.
Bone marrow transplantation in hemophagocytic lymphohistiocytosis.
Dürken M, Finckenstein FG, Janka GE.
Leuk Lymphoma. 2001 Mar;41(1-2):89-95. Review.
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.
Göransdotter Ericson K, Fadeel B, Nilsson-Ardnor S, Söderhäll C, Samuelsson A, Janka G, Schneider M, Gürgey A, Yalman N, Révész T, Egeler R, Jahnukainen K, Storm-Mathiesen I, Haraldsson A, Poole J, de Saint Basile G, Nordenskjöld M, Henter J.
Am J Hum Genet. 2001 Mar;68(3):590-7. Epub 2001 Feb 6.
Improved outcome in haemophagocytic lymphohistiocytosis after bone marrow transplantation from related and unrelated donors: a single-centre experience of 12 patients.
Dürken M, Horstmann M, Bieling P, Erttmann R, Kabisch H, Löliger C, Schneider EM, Hellwege HH, Krüger W, Kröger N, Zander AR, Janka GE.
Br J Haematol. 1999 Sep;106(4):1052-8.
Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity.
Dufourcq-Lagelouse R, Jabado N, Le Deist F, Stéphan JL, Souillet G, Bruin M, Vilmer E, Schneider M, Janka G, Fischer A, de Saint Basile G.
Am J Hum Genet. 1999 Jan;64(1):172-9.
[Treatment of hemophagocytic lymphohistiocytosis, HLH, with bone marrow transplantation]
Dürken M, Schneider EM, Blütters-Sawatzki R, Stollmann-Gibbels B, Nessler G, Bretz R, Körholz D, Probst EN, Holsten-Griffin H, Harps E, Zander AR, Janka GE.
Klin Padiatr. 1998 Jul-Aug;210(4):180-4. German.
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