Novel somatic mutations in UBA1 as a cause of VEXAS syndrome

被引：142
作者：
Poulter, James A. [1 ,2 ]
Collins, Jason C. [3 ]
Cargo, Catherine [4 ]
De Tute, Ruth M. [4 ]
Evans, Paul [4 ]
Cardona, Daniela Ospina [5 ]
Bowen, David T. [6 ]
Cunnington, Joanna R. [7 ]
Baguley, Elaine [7 ]
Quinn, Mark [8 ]
Green, Michael [8 ]
McGonagle, Dennis [1 ,9 ]
Beck, David B. [5 ]
Werner, Achim [3 ]
Savic, Sinisa [1 ,9 ]
机构：
[1] Univ Leeds, Leeds Inst Rheumat & Musculoskeletal Med, Leeds, W Yorkshire, England
[2] Univ Leeds, Leeds Inst Med Res, Leeds, W Yorkshire, England
[3] Natl Inst Dent & Craniofacial Res, NIH, Bethesda, MD USA
[4] St James Univ Hosp, Haematol Malignancy Diagnost Serv, Leeds, W Yorkshire, England
[5] NHGRI, NIH, Bethesda, MD 20892 USA
[6] Leeds Teaching Hosp, Dept Haematol, Leeds, W Yorkshire, England
[7] Hull Univ Teaching Hosp, Dept Rheumatol, Kingston Upon Hull, N Humberside, England
[8] York Teaching Hosp NHS Fdn Trust, Dept Rheumatol, York, N Yorkshire, England
[9] Univ Leeds, Leeds Biomed Res Ctr, Natl Inst Hlth Res, Leeds, W Yorkshire, England
来源：
BLOOD | 2021年 / 137卷 / 26期
基金：
欧盟地平线“2020”; 美国国家卫生研究院;
关键词：
D O I：
10.1182/blood.2020010286
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：3676 / 3681
页数：7
相关论文
共 7 条
  • [1] Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease
    Beck, David B.
    Ferrada, Marcela A.
    Sikora, Keith A.
    Ombrello, Amanda K.
    Collins, Jason C.
    Pei, Wuhong
    Balanda, Nicholas
    Ross, Daron L.
    Ospina Cardona, Daniela
    Wu, Zhijie
    Patel, Bhavisha
    Manthiram, Kalpana
    Groarke, Emma M.
    Gutierrez-Rodrigues, Fernanda
    Hoffmann, Patrycja
    Rosenzweig, Sofia
    Nakabo, Shuichiro
    Dillon, Laura W.
    Hourigan, Christopher S.
    Tsai, Wanxia L.
    Gupta, Sarthak
    Carmona-Rivera, Carmelo
    Asmar, Anthony J.
    Xu, Lisha
    Oda, Hirotsugu
    Goodspeed, Wendy
    Barron, Karyl S.
    Nehrebecky, Michele
    Jones, Anne
    Laird, Ryan S.
    Deuitch, Natalie
    Rowczenio, Dorota
    Rominger, Emily
    Wells, Kristina V.
    Lee, Chyi-Chia R.
    Wang, Weixin
    Trick, Megan
    Mullikin, James
    Wigerblad, Gustaf
    Brooks, Stephen
    Dell'Orso, Stefania
    Deng, Zuoming
    Chae, Jae J.
    Dulau-Florea, Alina
    Malicdan, May C. V.
    Novacic, Danica
    Colbert, Robert A.
    Kaplan, Mariana J.
    Gadina, Massimo
    Savic, Sinisa
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2020, 383 (27) : 2628 - 2638
  • [2] The mutational constraint spectrum quantified from variation in 141,456 humans
    Karczewski, Konrad J.
    Francioli, Laurent C.
    Tiao, Grace
    Cummings, Beryl B.
    Alfoldi, Jessica
    Wang, Qingbo
    Collins, Ryan L.
    Laricchia, Kristen M.
    Ganna, Andrea
    Birnbaum, Daniel P.
    Gauthier, Laura D.
    Brand, Harrison
    Solomonson, Matthew
    Watts, Nicholas A.
    Rhodes, Daniel
    Singer-Berk, Moriel
    England, Eleina M.
    Seaby, Eleanor G.
    Kosmicki, Jack A.
    Walters, Raymond K.
    Tashman, Katherine
    Farjoun, Yossi
    Banks, Eric
    Poterba, Timothy
    Wang, Arcturus
    Seed, Cotton
    Whiffin, Nicola
    Chong, Jessica X.
    Samocha, Kaitlin E.
    Pierce-Hoffman, Emma
    Zappala, Zachary
    O'Donnell-Luria, Anne H.
    Minikel, Eric Vallabh
    Weisburd, Ben
    Lek, Monkol
    Ware, James S.
    Vittal, Christopher
    Armean, Irina M.
    Bergelson, Louis
    Cibulskis, Kristian
    Connolly, Kristen M.
    Covarrubias, Miguel
    Donnelly, Stacey
    Ferriera, Steven
    Gabriel, Stacey
    Gentry, Jeff
    Gupta, Namrata
    Jeandet, Thibault
    Kaplan, Diane
    Llanwarne, Christopher
    [J]. NATURE, 2020, 581 (7809) : 434 - +
  • [3] Certain Autoimmune Manifestations Are Associated With Distinctive Karyotypes and Outcomes in Patients With Myelodysplastic Syndrome A Retrospective Cohort Study
    Lee, Sang Jin
    Park, Jin Kyun
    Lee, Eun Young
    Joo, Sang Hyun
    Jung, Kyeong Cheon
    Lee, Eun Bong
    Song, Yeong Wook
    Yoon, Sung-Soo
    [J]. MEDICINE, 2016, 95 (13) : e3091
  • [4] Systemic inflammatory and autoimmune manifestations associated with myelodysplastic syndromes and chronic myelomonocytic leukaemia: a French multicentre retrospective study
    Mekinian, Arsene
    Grignano, Eric
    Braun, Thorsten
    Decaux, Olivier
    Liozon, Eric
    Costedoat-Chalumeau, Nathalie
    Kahn, Jean-Emmanuel
    Hamidou, Mohammed
    Park, Sophie
    Puechal, Xavier
    Toussirot, Eric
    Falgarone, Geraldine
    Launay, David
    Morel, Nathalie
    Trouiller, Sebastien
    Mathian, Alexis
    Gombert, Bruno
    Schoindre, Yoland
    Lioger, Bertrand
    De Wazieres, Benoit
    Amoura, Zahir
    Buchdaul, Anne-Laure
    Georgin-Lavialle, Sophie
    Dion, Jeremie
    Madaule, Serge
    Raffray, Loic
    Cathebras, Pascal
    Piette, Jean Charles
    Rose, Christian
    Ziza, Jean Marc
    Lortholary, Olivier
    Montestruc, Francois
    Omouri, Mohammed
    Denis, Guillaume
    Rossignol, Julien
    Nimubona, Stanislas
    Ades, Lionel
    Gardin, Claude
    Fenaux, Pierre
    Fain, Olivier
    [J]. RHEUMATOLOGY, 2016, 55 (02) : 291 - 300
  • [5] Moving towards a systems-based classification of innate immune-mediated diseases
    Savic, Sinisa
    Caseley, Emily A.
    McDermott, Michael F.
    [J]. NATURE REVIEWS RHEUMATOLOGY, 2020, 16 (04) : 222 - 237
  • [6] Watad A, FRONT IMMUNOL, V12
  • [7] Autoimmunity and inflammation in Myelodysplastic Syndromes
    Wolach, Ofir
    Stone, Richard
    [J]. ACTA HAEMATOLOGICA, 2016, 136 (02) : 108 - 117
1