Literature DB >> 26472737

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome.

Anne Rensing-Ehl1, Ulrich Pannicke2, Stefanie-Yvonne Zimmermann3, Myriam Ricarda Lorenz2, Benedicte Neven4, Ilka Fuchs1, Ulrich Salzer1, Carsten Speckmann5, Anne Strauss6, Eberhard Maaβ7, Benedicte Collet8, Anselm Enders9, Remi Favier10, Marie Christine Alessi10, Frederic Rieux-Laucat4, Barbara Zieger6, Klaus Schwarz11, Stephan Ehl1.   

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Year:  2015        PMID: 26472737      PMCID: PMC4683566          DOI: 10.1182/blood-2015-06-654145

Source DB:  PubMed          Journal:  Blood        ISSN: 0006-4971            Impact factor:   22.113


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  10 in total

1.  Elevated vitamin B₁₂ levels in autoimmune lymphoproliferative syndrome attributable to elevated haptocorrin in lymphocytes.

Authors:  Raffick A R Bowen; Kennichi C Dowdell; Janet K Dale; Steven K Drake; Thomas A Fleisher; Glen L Hortin; Alan T Remaley; Ebba Nexo; V Koneti Rao
Journal:  Clin Biochem       Date:  2012-01-28       Impact factor: 3.281

2.  Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia.

Authors:  Anne Rensing-Ehl; Ales Janda; Myriam R Lorenz; Beryl P Gladstone; Ilka Fuchs; Mario Abinun; Michael Albert; Karina Butler; Andrew Cant; Anna-Maria Cseh; Martin Ebinger; Sigune Goldacker; Sophie Hambleton; Holger Hebart; Leonora Houet; Karim Kentouche; Ingrid Kühnle; Kai Lehmberg; Ester Mejstrikova; Charlotte Niemeyer; Milen Minkov; Olaf Neth; Gregor Dückers; Stephan Owens; Joachim Rösler; Freimut H Schilling; Volker Schuster; Markus G Seidel; Petr Smisek; Martina Sukova; Peter Svec; Thomas Wiesel; Benjamin Gathmann; Klaus Schwarz; Werner Vach; Stephan Ehl; Carsten Speckmann
Journal:  Haematologica       Date:  2013-07-12       Impact factor: 9.941

3.  Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome.

Authors:  Iusta Caminha; Thomas A Fleisher; Ronald L Hornung; Janet K Dale; Julie E Niemela; Susan Price; Joie Davis; Katie Perkins; Kennichi C Dowdell; Margaret R Brown; V Koneti Rao; João Bosco Oliveira
Journal:  J Allergy Clin Immunol       Date:  2010-03-15       Impact factor: 10.793

4.  Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.

Authors:  Meral Gunay-Aygun; Yifat Zivony-Elboum; Fatma Gumruk; Dan Geiger; Mualla Cetin; Morad Khayat; Robert Kleta; Nehama Kfir; Yair Anikster; Judith Chezar; Mauricio Arcos-Burgos; Adel Shalata; Horia Stanescu; Joseph Manaster; Mutlu Arat; Hailey Edwards; Andrew S Freiberg; P Suzanne Hart; Lauren C Riney; Katherine Patzel; Pranoot Tanpaiboon; Tom Markello; Marjan Huizing; Irina Maric; McDonald Horne; Beate E Kehrel; Kerstin Jurk; Nancy F Hansen; Praveen F Cherukuri; Marypat Jones; Pedro Cruz; Jim C Mullikin; Alan Nurden; James G White; William A Gahl; Tzippora Falik-Zaccai
Journal:  Blood       Date:  2010-08-13       Impact factor: 22.113

5.  FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function.

Authors:  Aude Magerus-Chatinet; Marie-Claude Stolzenberg; Maria S Loffredo; Bénédicte Neven; Catherine Schaffner; Nicolas Ducrot; Peter D Arkwright; Brigitte Bader-Meunier; José Barbot; Stéphane Blanche; Jean-Laurent Casanova; Marianne Debré; Alina Ferster; Claire Fieschi; Benoit Florkin; Claire Galambrun; Olivier Hermine; Olivier Lambotte; Eric Solary; Caroline Thomas; Francoise Le Deist; Capucine Picard; Alain Fischer; Frédéric Rieux-Laucat
Journal:  Blood       Date:  2009-01-27       Impact factor: 22.113

6.  Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome.

Authors:  G H Fisher; F J Rosenberg; S E Straus; J K Dale; L A Middleton; A Y Lin; W Strober; M J Lenardo; J M Puck
Journal:  Cell       Date:  1995-06-16       Impact factor: 41.582

Review 7.  Significance of elevated cobalamin (vitamin B12) levels in blood.

Authors:  A A M Ermens; L T Vlasveld; J Lindemans
Journal:  Clin Biochem       Date:  2003-11       Impact factor: 3.281

8.  Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity.

Authors:  F Rieux-Laucat; F Le Deist; C Hivroz; I A Roberts; K M Debatin; A Fischer; J P de Villartay
Journal:  Science       Date:  1995-06-02       Impact factor: 47.728

9.  Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.

Authors:  Cornelis A Albers; Ana Cvejic; Rémi Favier; Evelien E Bouwmans; Marie-Christine Alessi; Paul Bertone; Gregory Jordan; Ross N W Kettleborough; Graham Kiddle; Myrto Kostadima; Randy J Read; Botond Sipos; Suthesh Sivapalaratnam; Peter A Smethurst; Jonathan Stephens; Katrin Voss; Alan Nurden; Augusto Rendon; Paquita Nurden; Willem H Ouwehand
Journal:  Nat Genet       Date:  2011-07-17       Impact factor: 38.330

10.  NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules.

Authors:  Meral Gunay-Aygun; Tzipora C Falik-Zaccai; Thierry Vilboux; Yifat Zivony-Elboum; Fatma Gumruk; Mualla Cetin; Morad Khayat; Cornelius F Boerkoel; Nehama Kfir; Yan Huang; Dawn Maynard; Heidi Dorward; Katherine Berger; Robert Kleta; Yair Anikster; Mutlu Arat; Andrew S Freiberg; Beate E Kehrel; Kerstin Jurk; Pedro Cruz; Jim C Mullikin; James G White; Marjan Huizing; William A Gahl
Journal:  Nat Genet       Date:  2011-07-17       Impact factor: 38.330

  10 in total
  3 in total

1.  Neutrophil specific granule and NETosis defects in gray platelet syndrome.

Authors:  Cathelijn E M Aarts; Kate Downes; Arie J Hoogendijk; Evelien G G Sprenkeler; Roel P Gazendam; Rémi Favier; Marie Favier; Anton T J Tool; John L van Hamme; Myrto A Kostadima; Kate Waller; Barbara Zieger; Maaike G J M van Bergen; Saskia M C Langemeijer; Bert A van der Reijden; Hans Janssen; Timo K van den Berg; Robin van Bruggen; Alexander B Meijer; Willem H Ouwehand; Taco W Kuijpers
Journal:  Blood Adv       Date:  2021-01-26

2.  NBEAL2 is required for neutrophil and NK cell function and pathogen defense.

Authors:  John M Sowerby; David C Thomas; Simon Clare; Marion Espéli; Jose A Guerrero; Kim Hoenderdos; Katherine Harcourt; Morgan Marsden; Juneid Abdul-Karim; Mathew Clement; Robin Antrobus; Yagnesh Umrania; Philippa R Barton; Shaun M Flint; Jatinder K Juss; Alison M Condliffe; Paul A Lyons; Ian R Humphreys; Edwin R Chilvers; Willem H Ouwehand; Gordon Dougan; Kenneth Gc Smith
Journal:  J Clin Invest       Date:  2017-08-07       Impact factor: 14.808

3.  Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.

Authors:  Matthew C Sims; Louisa Mayer; Janine H Collins; Tadbir K Bariana; Karyn Megy; Cecile Lavenu-Bombled; Denis Seyres; Laxmikanth Kollipara; Frances S Burden; Daniel Greene; Dave Lee; Antonio Rodriguez-Romera; Marie-Christine Alessi; William J Astle; Wadie F Bahou; Loredana Bury; Elizabeth Chalmers; Rachael Da Silva; Erica De Candia; Sri V V Deevi; Samantha Farrow; Keith Gomez; Luigi Grassi; Andreas Greinacher; Paolo Gresele; Dan Hart; Marie-Françoise Hurtaud; Anne M Kelly; Ron Kerr; Sandra Le Quellec; Thierry Leblanc; Eva B Leinøe; Rutendo Mapeta; Harriet McKinney; Alan D Michelson; Sara Morais; Diane Nugent; Sofia Papadia; Soo J Park; John Pasi; Gian Marco Podda; Man-Chiu Poon; Rachel Reed; Mallika Sekhar; Hanna Shalev; Suthesh Sivapalaratnam; Orna Steinberg-Shemer; Jonathan C Stephens; Robert C Tait; Ernest Turro; John K M Wu; Barbara Zieger; Taco W Kuijpers; Anthony D Whetton; Albert Sickmann; Kathleen Freson; Kate Downes; Wendy N Erber; Mattia Frontini; Paquita Nurden; Willem H Ouwehand; Remi Favier; Jose A Guerrero
Journal:  Blood       Date:  2020-10-22       Impact factor: 22.113

  3 in total

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