Literature DB >> 32150605

Identification of germline variants in adults with hemophagocytic lymphohistiocytosis.

Peter G Miller1,2,3, Abhishek Niroula1,3, John J Ceremsak4, Christopher J Gibson1, Martin S Taylor5, Sebastian Birndt6, Florian Perner1, Jon Arnason7, Adam S Sperling1,3, Mridul Agrawal1,2, Alison M Schram8, Sarah Nikiforow1, German Pihan7, Robert P Hasserjian5, Jon C Aster9, Paul La Rosée10, Elizabeth A Morgan9, Nancy Berliner2, Benjamin L Ebert1,3,11.   

Abstract

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Year:  2020        PMID: 32150605      PMCID: PMC7065469          DOI: 10.1182/bloodadvances.2019001272

Source DB:  PubMed          Journal:  Blood Adv        ISSN: 2473-9529


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  20 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.  Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.

Authors:  Kejian Zhang; Michael B Jordan; Rebecca A Marsh; Judith A Johnson; Diane Kissell; Jarek Meller; Joyce Villanueva; Kimberly A Risma; Qian Wei; Peter S Klein; Alexandra H Filipovich
Journal:  Blood       Date:  2011-08-31       Impact factor: 22.113

3.  HLH-94: a treatment protocol for hemophagocytic lymphohistiocytosis. HLH study Group of the Histiocyte Society.

Authors:  J I Henter; M Aricò; R M Egeler; G Elinder; B E Favara; A H Filipovich; H Gadner; S Imashuku; G Janka-Schaub; D Komp; S Ladisch; D Webb
Journal:  Med Pediatr Oncol       Date:  1997-05

Review 4.  How I treat hemophagocytic lymphohistiocytosis in the adult patient.

Authors:  Alison M Schram; Nancy Berliner
Journal:  Blood       Date:  2015-03-10       Impact factor: 22.113

5.  Polygenic mutations in the cytotoxicity pathway increase susceptibility to develop HLH immunopathology in mice.

Authors:  Fernando E Sepulveda; Alexandrine Garrigue; Sophia Maschalidi; Meriem Garfa-Traore; Gaël Ménasché; Alain Fischer; Geneviève de Saint Basile
Journal:  Blood       Date:  2016-02-10       Impact factor: 22.113

6.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

7.  In silico prediction of splice-altering single nucleotide variants in the human genome.

Authors:  Xueqiu Jian; Eric Boerwinkle; Xiaoming Liu
Journal:  Nucleic Acids Res       Date:  2014-12-16       Impact factor: 16.971

8.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

9.  A high sIL-2R/ferritin ratio is a useful marker for the diagnosis of lymphoma-associated hemophagocytic syndrome.

Authors:  Takahiro Tsuji; Taichi Hirano; Hiroshi Yamasaki; Mayumi Tsuji; Hiroyuki Tsuda
Journal:  Ann Hematol       Date:  2013-10-25       Impact factor: 3.673

10.  Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry.

Authors:  Valentina Cetica; Elena Sieni; Daniela Pende; Cesare Danesino; Carmen De Fusco; Franco Locatelli; Concetta Micalizzi; Maria Caterina Putti; Andrea Biondi; Franca Fagioli; Lorenzo Moretta; Gillian M Griffiths; Lucio Luzzatto; Maurizio Aricò
Journal:  J Allergy Clin Immunol       Date:  2015-09-02       Impact factor: 10.793

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  2 in total

1.  An improved index for diagnosis and mortality prediction in malignancy-associated hemophagocytic lymphohistiocytosis.

Authors:  Adi Zoref-Lorenz; Jun Murakami; Liron Hofstetter; Swaminathan Iyer; Ahmad S Alotaibi; Shehab Fareed Mohamed; Peter G Miller; Elad Guber; Shiri Weinstein; Joanne Yacobovich; Sarah Nikiforow; Benjamin L Ebert; Adam Lane; Oren Pasvolsky; Pia Raanani; Arnon Nagler; Nancy Berliner; Naval Daver; Martin Ellis; Michael B Jordan
Journal:  Blood       Date:  2022-02-17       Impact factor: 25.476

2.  No association between <i>ECSIT</i> germline mutations and hemophagocytic lymphohistiocytosis in natural killer/T-cell lymphoma.

Authors:  Shin Yeu Ong; Jing Quan Lim; Nicholas Grigoropoulos; Yurike Laurensia; Dachuan Huang; Burton Kuan Hui Chia; Daryl Cheah Ming Zhe; Sahil Ajit Saraf; Chee Leong Cheng; Wen-Yu Chuang; Ming-Chung Kuo; Yi-Jiun Su; Colin Phipps; Chandramouli Nagarajan; Yuh Shan Lee; Daryl Tan Chen Lung; Lee-Yung Shih; Yeow Tee Goh; Soon Thye Lim; Choon Kiat Ong
Journal:  Haematologica       Date:  2021-06-01       Impact factor: 9.941

  2 in total

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