Literature DB >> 22336081

Novel mutation in STXBP2 prevents IL-2-induced natural killer cell cytotoxicity.

Rushani W Saltzman, Linda Monaco-Shawver, Kejian Zhang, Kathleen E Sullivan, Alexandra H Filipovich, Jordan S Orange.   

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Year:  2012        PMID： 22336081      PMCID： PMC3646578          DOI： 10.1016/j.jaci.2011.12.1003

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  9 in total

1.  HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.

Authors:  Jan-Inge Henter; Annacarin Horne; Maurizio Aricó; R Maarten Egeler; Alexandra H Filipovich; Shinsaku Imashuku; Stephan Ladisch; Ken McClain; David Webb; Jacek Winiarski; Gritta Janka
Journal:  Pediatr Blood Cancer       Date:  2007-02       Impact factor: 3.167

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

Authors:  Marjorie Côte; Mickaël M Ménager; Agathe Burgess; Nizar Mahlaoui; Capucine Picard; Catherine Schaffner; Fahad Al-Manjomi; Musa Al-Harbi; Abdullah Alangari; Françoise Le Deist; Andrew R Gennery; Nathalie Prince; Astrid Cariou; Patrick Nitschke; Ulrich Blank; Gehad El-Ghazali; Gaël Ménasché; Sylvain Latour; Alain Fischer; Geneviève de Saint Basile
Journal:  J Clin Invest       Date:  2009-11-02       Impact factor: 14.808

3.  Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.

Authors:  Udo Zur Stadt; Karin Beutel; Susanne Kolberg; Reinhard Schneppenheim; Hartmut Kabisch; Gritta Janka; Hans Christian Hennies
Journal:  Hum Mutat       Date:  2006-01       Impact factor: 4.878

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

Authors:  Marie Meeths; Miriam Entesarian; Waleed Al-Herz; Samuel C C Chiang; Stephanie M Wood; Wafa Al-Ateeqi; Francisco Almazan; Jaap J Boelens; Henrik Hasle; Marianne Ifversen; Bendik Lund; J Merlijn van den Berg; Britt Gustafsson; Hans Hjelmqvist; Magnus Nordenskjöld; Yenan T Bryceson; Jan-Inge Henter
Journal:  Blood       Date:  2010-06-17       Impact factor: 22.113

5.  IL-2 induces a WAVE2-dependent pathway for actin reorganization that enables WASp-independent human NK cell function.

Authors:  Jordan S Orange; Sumita Roy-Ghanta; Emily M Mace; Saumya Maru; Gregory D Rak; Keri B Sanborn; Anders Fasth; Rushani Saltzman; Allison Paisley; Linda Monaco-Shawver; Pinaki P Banerjee; Rahul Pandey
Journal:  J Clin Invest       Date:  2011-03-07       Impact factor: 14.808

6.  STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.

Authors:  Valentina Cetica; Alessandra Santoro; Kimberly C Gilmour; Elena Sieni; Karin Beutel; Daniela Pende; Stefania Marcenaro; Florian Koch; Samantha Grieve; Rachel Wheeler; Fang Zhao; Udo zur Stadt; Gillian M Griffiths; Maurizio Aricò
Journal:  J Med Genet       Date:  2010-09       Impact factor: 6.318

Review 7.  Formation and function of the lytic NK-cell immunological synapse.

Authors:  Jordan S Orange
Journal:  Nat Rev Immunol       Date:  2008-09       Impact factor: 53.106

Review 8.  Hemophagocytic lymphohistiocytosis and other hemophagocytic disorders.

Authors:  Alexandra H Filipovich
Journal:  Immunol Allergy Clin North Am       Date:  2008-05       Impact factor: 3.479

9.  Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.

Authors:  Udo zur Stadt; Jan Rohr; Wenke Seifert; Florian Koch; Samantha Grieve; Julia Pagel; Julia Strauss; Brigitte Kasper; Gudrun Nürnberg; Christian Becker; Andrea Maul-Pavicic; Karin Beutel; Gritta Janka; Gillian Griffiths; Stephan Ehl; Hans Christian Hennies
Journal:  Am J Hum Genet       Date:  2009-10       Impact factor: 11.025
  9 in total
  3 in total

1.  Syntaxin binding mechanism and disease-causing mutations in Munc18-2.

Authors:  Yvonne Hackmann; Stephen C Graham; Stephan Ehl; Stefan Höning; Kai Lehmberg; Maurizio Aricò; David J Owen; Gillian M Griffiths
Journal:  Proc Natl Acad Sci U S A       Date:  2013-11-05       Impact factor: 11.205

2.  Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency.

Authors:  Patrick Maffucci; Charles A Filion; Bertrand Boisson; Yuval Itan; Lei Shang; Jean-Laurent Casanova; Charlotte Cunningham-Rundles
Journal:  Front Immunol       Date:  2016-06-13       Impact factor: 7.561

3.  Dilemmas in the diagnosis and pathogenesis of atypical late-onset familial haemophagocytic lymphohistiocytosis.

Authors:  Adrian Minson; Ilia Voskoboinik; Andrew Grigg
Journal:  Clin Transl Immunology       Date:  2021-07-26
  3 in total

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