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Items: 1 to 20 of 273

1.

Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.

Meeths M, Entesarian M, Al-Herz W, Chiang SC, Wood SM, Al-Ateeqi W, Almazan F, Boelens JJ, Hasle H, Ifversen M, Lund B, van den Berg JM, Gustafsson B, Hjelmqvist H, Nordenskjöld M, Bryceson YT, Henter JI.

Blood. 2010 Oct 14;116(15):2635-43. doi: 10.1182/blood-2010-05-282541.

2.

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.

Haematologica. 2010 Dec;95(12):2080-7. doi: 10.3324/haematol.2010.029389.

3.

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.

Blood. 2012 Jun 21;119(25):6016-24. doi: 10.1182/blood-2011-12-398958.

4.

Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes.

Nagai K, Yamamoto K, Fujiwara H, An J, Ochi T, Suemori K, Yasumi T, Tauchi H, Koh K, Sato M, Morimoto A, Heike T, Ishii E, Yasukawa M.

PLoS One. 2010 Nov 30;5(11):e14173. doi: 10.1371/journal.pone.0014173.

5.

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.

Côte M, Ménager MM, Burgess A, Mahlaoui N, Picard C, Schaffner C, Al-Manjomi F, Al-Harbi M, Alangari A, Le Deist F, Gennery AR, Prince N, Cariou A, Nitschke P, Blank U, El-Ghazali G, Ménasché G, Latour S, Fischer A, de Saint Basile G.

J Clin Invest. 2009 Dec;119(12):3765-73. doi: 10.1172/JCI40732.

6.

Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis.

Rudd E, Bryceson YT, Zheng C, Edner J, Wood SM, Ramme K, Gavhed S, Gürgey A, Hellebostad M, Bechensteen AG, Ljunggren HG, Fadeel B, Nordenskjöld M, Henter JI.

J Med Genet. 2008 Mar;45(3):134-41.

PMID:
17993578
7.

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. doi: 10.1016/j.ajhg.2009.09.005.

8.

Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia.

Esmaeilzadeh H, Bemanian MH, Nabavi M, Arshi S, Fallahpour M, Fuchs I, zur Stadt U, Warnatz K, Ammann S, Ehl S, Lehmberg K, Rezaei N.

J Clin Immunol. 2015 Jan;35(1):22-5. doi: 10.1007/s10875-014-0119-z.

PMID:
25491289
9.

Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion.

Spessott WA, Sanmillan ML, McCormick ME, Patel N, Villanueva J, Zhang K, Nichols KE, Giraudo CG.

Blood. 2015 Mar 5;125(10):1566-77. doi: 10.1182/blood-2014-11-610816.

10.

STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America.

Marsh RA, Satake N, Biroschak J, Jacobs T, Johnson J, Jordan MB, Bleesing JJ, Filipovich AH, Zhang K.

Pediatr Blood Cancer. 2010 Jul 15;55(1):134-40. doi: 10.1002/pbc.22499.

PMID:
20486178
11.

Angeborene hämophagozytische Lymphohistiozytose (HLH).

Pachlopnik Schmid J, de Saint Basile G.

Klin Padiatr. 2010 Nov;222(6):345-50. doi: 10.1055/s-0029-1246165. Review.

PMID:
20458667
12.

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.

Cetica V, Santoro A, Gilmour KC, Sieni E, Beutel K, Pende D, Marcenaro S, Koch F, Grieve S, Wheeler R, Zhao F, zur Stadt U, Griffiths GM, Aricò M.

J Med Genet. 2010 Sep;47(9):595-600. doi: 10.1136/jmg.2009.075341.

13.

Novel STXBP2 mutation causing familial hemophagocytic lymphohistiocytosis.

Jain R, Puliyel M, Moses PD, Sieni E.

Indian Pediatr. 2012 Jun;49(6):488-90.

14.

Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4).

Macartney CA, Weitzman S, Wood SM, Bansal D, Steele M, Meeths M, Abdelhaleem M, Bryceson YT.

Pediatr Blood Cancer. 2011 Apr;56(4):654-7. doi: 10.1002/pbc.22676.

PMID:
21298754
15.

Defects in neutrophil granule mobilization and bactericidal activity in familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) syndrome caused by STXBP2/Munc18-2 mutations.

Zhao XW, Gazendam RP, Drewniak A, van Houdt M, Tool AT, van Hamme JL, Kustiawan I, Meijer AB, Janssen H, Russell DG, van de Corput L, Tesselaar K, Boelens JJ, Kuhnle I, Van Der Werff Ten Bosch J, Kuijpers TW, van den Berg TK.

Blood. 2013 Jul 4;122(1):109-11. doi: 10.1182/blood-2013-03-494039.

16.

Correlation between phenotypic heterogeneity and gene mutational characteristics in familial hemophagocytic lymphohistiocytosis (FHL).

Ueda I, Ishii E, Morimoto A, Ohga S, Sako M, Imashuku S.

Pediatr Blood Cancer. 2006 Apr;46(4):482-8.

PMID:
16365863
17.

Mutations of the hemophagocytic lymphohistiocytosis-associated gene UNC13D in a patient with systemic juvenile idiopathic arthritis.

Hazen MM, Woodward AL, Hofmann I, Degar BA, Grom A, Filipovich AH, Binstadt BA.

Arthritis Rheum. 2008 Feb;58(2):567-70. doi: 10.1002/art.23199.

18.

Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations.

Stepensky P, Bartram J, Barth TF, Lehmberg K, Walther P, Amann K, Philips AD, Beringer O, Zur Stadt U, Schulz A, Amrolia P, Weintraub M, Debatin KM, Hoenig M, Posovszky C.

Pediatr Blood Cancer. 2013 Jul;60(7):1215-22. doi: 10.1002/pbc.24475.

PMID:
23382066
19.

Hemophagocytic lymphohistiocytosis: when the immune system runs amok.

Janka G.

Klin Padiatr. 2009 Sep;221(5):278-85. doi: 10.1055/s-0029-1237386. Review.

PMID:
19707989
20.

Clinical aspects, immunologic assessment, and genetic analysis in Taiwanese children with hemophagocytic lymphohistiocytosis.

Lee WI, Chen SH, Hung IJ, Yang CP, Jaing TH, Chen CJ, Li SP, Huang JL.

Pediatr Infect Dis J. 2009 Jan;28(1):30-4. doi: 10.1097/INF.0b013e3181813592.

PMID:
19057461
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