Literature DB >> 33690815

Novel somatic mutations in UBA1 as a cause of VEXAS syndrome.

James A Poulter1,2, Jason C Collins3, Catherine Cargo4, Ruth M De Tute4, Paul Evans4, Daniela Ospina Cardona5, David T Bowen6, Joanna R Cunnington7, Elaine Baguley7, Mark Quinn8, Michael Green8, Dennis McGonagle1,9, David B Beck5, Achim Werner3, Sinisa Savic1,9.   

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Year:  2021        PMID: 33690815      PMCID: PMC8462400          DOI: 10.1182/blood.2020010286

Source DB:  PubMed          Journal:  Blood        ISSN: 0006-4971            Impact factor:   25.476


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  7 in total

Review 1.  Moving towards a systems-based classification of innate immune-mediated diseases.

Authors:  Sinisa Savic; Emily A Caseley; Michael F McDermott
Journal:  Nat Rev Rheumatol       Date:  2020-02-27       Impact factor: 20.543

2.  Systemic inflammatory and autoimmune manifestations associated with myelodysplastic syndromes and chronic myelomonocytic leukaemia: a French multicentre retrospective study.

Authors:  Arsène Mekinian; Eric Grignano; Thorsten Braun; Olivier Decaux; Eric Liozon; Nathalie Costedoat-Chalumeau; Jean-Emmanuel Kahn; Mohammed Hamidou; Sophie Park; Xavier Puéchal; Eric Toussirot; Géraldine Falgarone; David Launay; Nathalie Morel; Sébastien Trouiller; Alexis Mathian; Bruno Gombert; Yoland Schoindre; Bertrand Lioger; Benoit De Wazieres; Zahir Amoura; Anne-Laure Buchdaul; Sophie Georgin-Lavialle; Jérémie Dion; Serge Madaule; Loïc Raffray; Pascal Cathebras; Jean Charles Piette; Christian Rose; Jean Marc Ziza; Olivier Lortholary; Francois Montestruc; Mohammed Omouri; Guillaume Denis; Julien Rossignol; Stanislas Nimubona; Lionel Adès; Claude Gardin; Pierre Fenaux; Olivier Fain
Journal:  Rheumatology (Oxford)       Date:  2015-09-08       Impact factor: 7.580

3.  Autoimmunity and Inflammation in Myelodysplastic Syndromes.

Authors:  Ofir Wolach; Richard Stone
Journal:  Acta Haematol       Date:  2016-06-24       Impact factor: 2.195

4.  Somatic Mutations and the Risk of Undifferentiated Autoinflammatory Disease in MDS: An Under-Recognized but Prognostically Important Complication.

Authors:  Abdulla Watad; Mark Kacar; Nicola Luigi Bragazzi; Qiao Zhou; Miriam Jassam; Jan Taylor; Eve Roman; Alexandra Smith; Richard A Jones; Howard Amital; Catherine Cargo; Dennis McGonagle; Sinisa Savic
Journal:  Front Immunol       Date:  2021-02-19       Impact factor: 7.561

5.  Certain Autoimmune Manifestations Are Associated With Distinctive Karyotypes and Outcomes in Patients With Myelodysplastic Syndrome: A Retrospective Cohort Study.

Authors:  Sang Jin Lee; Jin Kyun Park; Eun Young Lee; Sang Hyun Joo; Kyeong Cheon Jung; Eun Bong Lee; Yeong Wook Song; Sung-Soo Yoon
Journal:  Medicine (Baltimore)       Date:  2016-03       Impact factor: 1.889

6.  Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.

Authors:  David B Beck; Marcela A Ferrada; Keith A Sikora; Amanda K Ombrello; Jason C Collins; Wuhong Pei; Nicholas Balanda; Daron L Ross; Daniela Ospina Cardona; Zhijie Wu; Bhavisha Patel; Kalpana Manthiram; Emma M Groarke; Fernanda Gutierrez-Rodrigues; Patrycja Hoffmann; Sofia Rosenzweig; Shuichiro Nakabo; Laura W Dillon; Christopher S Hourigan; Wanxia L Tsai; Sarthak Gupta; Carmelo Carmona-Rivera; Anthony J Asmar; Lisha Xu; Hirotsugu Oda; Wendy Goodspeed; Karyl S Barron; Michele Nehrebecky; Anne Jones; Ryan S Laird; Natalie Deuitch; Dorota Rowczenio; Emily Rominger; Kristina V Wells; Chyi-Chia R Lee; Weixin Wang; Megan Trick; James Mullikin; Gustaf Wigerblad; Stephen Brooks; Stefania Dell'Orso; Zuoming Deng; Jae J Chae; Alina Dulau-Florea; May C V Malicdan; Danica Novacic; Robert A Colbert; Mariana J Kaplan; Massimo Gadina; Sinisa Savic; Helen J Lachmann; Mones Abu-Asab; Benjamin D Solomon; Kyle Retterer; William A Gahl; Shawn M Burgess; Ivona Aksentijevich; Neal S Young; Katherine R Calvo; Achim Werner; Daniel L Kastner; Peter C Grayson
Journal:  N Engl J Med       Date:  2020-10-27       Impact factor: 91.245

7.  The mutational constraint spectrum quantified from variation in 141,456 humans.

Authors:  Konrad J Karczewski; Laurent C Francioli; Grace Tiao; Beryl B Cummings; Jessica Alföldi; Qingbo Wang; Ryan L Collins; Kristen M Laricchia; Andrea Ganna; Daniel P Birnbaum; Laura D Gauthier; Harrison Brand; Matthew Solomonson; Nicholas A Watts; Daniel Rhodes; Moriel Singer-Berk; Eleina M England; Eleanor G Seaby; Jack A Kosmicki; Raymond K Walters; Katherine Tashman; Yossi Farjoun; Eric Banks; Timothy Poterba; Arcturus Wang; Cotton Seed; Nicola Whiffin; Jessica X Chong; Kaitlin E Samocha; Emma Pierce-Hoffman; Zachary Zappala; Anne H O'Donnell-Luria; Eric Vallabh Minikel; Ben Weisburd; Monkol Lek; James S Ware; Christopher Vittal; Irina M Armean; Louis Bergelson; Kristian Cibulskis; Kristen M Connolly; Miguel Covarrubias; Stacey Donnelly; Steven Ferriera; Stacey Gabriel; Jeff Gentry; Namrata Gupta; Thibault Jeandet; Diane Kaplan; Christopher Llanwarne; Ruchi Munshi; Sam Novod; Nikelle Petrillo; David Roazen; Valentin Ruano-Rubio; Andrea Saltzman; Molly Schleicher; Jose Soto; Kathleen Tibbetts; Charlotte Tolonen; Gordon Wade; Michael E Talkowski; Benjamin M Neale; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2020-05-27       Impact factor: 69.504

  7 in total
  18 in total

Review 1.  Update on VEXAS and role of allogeneic bone marrow transplant: Considerations on behalf of the Chronic Malignancies Working Party of the EBMT.

Authors:  Carmelo Gurnari; Donal P McLornan
Journal:  Bone Marrow Transplant       Date:  2022-08-08       Impact factor: 5.174

Review 2.  Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS syndrome) with prominent supraglottic larynx involvement: a case-based review.

Authors:  Camila Andrea Guerrero-Bermúdez; Andrés Felipe Cardona-Cardona; Edwin Jesús Ariza-Parra; Juan Ignacio Arostegui; Anna Mensa-Vilaro; Jordi Yague; Gloria Vásquez; Carlos Horacio Muñoz-Vahos
Journal:  Clin Rheumatol       Date:  2022-08-20       Impact factor: 3.650

Review 3.  Somatic mutations in rheumatological diseases: VEXAS syndrome and beyond.

Authors:  Keith A Sikora; Kristina V Wells; Ertugrul Cagri Bolek; Adrianna I Jones; Peter C Grayson
Journal:  Rheumatology (Oxford)       Date:  2022-08-03       Impact factor: 7.046

4.  Adverse Reaction to COVID-19 mRNA Vaccination in a Patient With VEXAS Syndrome.

Authors:  Giulio Ciprian
Journal:  Cureus       Date:  2022-03-24

Review 5.  VEXAS syndrome.

Authors:  Peter C Grayson; Bhavisha A Patel; Neal S Young
Journal:  Blood       Date:  2021-07-01       Impact factor: 25.476

6.  Distinction between clonal and paraclonal cutaneous involvements in VEXAS syndrome.

Authors:  Valentin Lacombe; Annaelle Beucher; Geoffrey Urbanski; Yannick Le Corre; Laurane Cottin; Anne Croué; Anne Bouvier
Journal:  Exp Hematol Oncol       Date:  2022-02-16

7.  Successful allogeneic hematopoietic stem cell transplantation in patients with VEXAS syndrome: a 2-center experience.

Authors:  Ava Diarra; Nicolas Duployez; Elise Fournier; Claude Preudhomme; Valérie Coiteux; Leonardo Magro; Bruno Quesnel; Maël Heiblig; Pierre Sujobert; Fiorenza Barraco; Marie Balsat; Quentin Scanvion; Eric Hachulla; David Launay; Ibrahim Yakoub-Agha; Louis Terriou
Journal:  Blood Adv       Date:  2022-02-08

8.  Thrombosis in VEXAS syndrome.

Authors:  Thet Mon Oo; Jie Tian Jeanette Koay; Siew Fen Lee; Shang Ming Samuel Lee; Xin Rong Lim; Bingwen Eugene Fan
Journal:  J Thromb Thrombolysis       Date:  2021-11-24       Impact factor: 2.300

9.  VEXAS Syndrome: A Case Series From a Single-Center Cohort of Italian Patients With Vasculitis.

Authors:  Francesco Muratore; Chiara Marvisi; Paola Castrignanò; Davide Nicoli; Enrico Farnetti; Orsola Bonanno; Rosina Longo; Piera Zaldini; Elena Galli; Nicholas Balanda; David B Beck; Peter C Grayson; Nicolò Pipitone; Luigi Boiardi; Carlo Salvarani
Journal:  Arthritis Rheumatol       Date:  2022-03-03       Impact factor: 15.483

10.  Dominance of an UBA1 mutant clone over a CALR mutant clone: from essential thrombocytemia to VEXAS.

Authors:  Mehdi Hage-Sleiman; Sophie Lalevée; Hélène Guermouche; Fabrizia Favale; Michael Chaquin; Maxime Battistella; Jean-David Bouaziz; Martine Bagot; François Delhommeau; Florence Cordoliani; Pierre Hirsch
Journal:  Haematologica       Date:  2021-12-01       Impact factor: 9.941

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