S56F UBA1 variant is associated with haematological predominant subtype of VEXAS

被引:2
作者
Al-Hakim, Adam [1 ]
Kulasekararaj, Austin [2 ]
Norouzi, Mohsen [3 ]
Medlock, Ruth [4 ]
Patrick, Fraser [5 ]
Cargo, Catherine [6 ]
Savic, Sinisa [1 ,7 ,8 ]
机构
[1] St James Univ Hosp, Dept Clin Immunol & Allergy, Leeds, England
[2] Kings Coll Hosp NHS Fdn Trust, NIHR Wellcome Kings Clin Res Facil, London, England
[3] James Cook Univ Hosp, Middlesbrough, England
[4] Doncaster & Bassetlaw Teaching Hosp NHS Fdn Trust, Doncaster, England
[5] Inverclyde Royal Hosp, Greenock, Scotland
[6] St James Univ Hosp, Haematol Malignancy Diagnost Serv, Leeds, England
[7] St James Univ Hosp, Leeds Inst Rheumat & Musculoskeletal Med, Leeds, England
[8] Leeds Inst Rheumat & Musculoskeletal Med, Clin Sci Bldg,Beckett St, Leeds LS9 7TF, England
关键词
D O I
10.1111/bjh.19021
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页数:5
相关论文
共 7 条
[1]   Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population [J].
Beck, David B. ;
Bodian, Dale L. ;
Shah, Vandan ;
Mirshahi, Uyenlinh L. ;
Kim, Jung ;
Ding, Yi ;
Magaziner, Samuel J. ;
Strande, Natasha T. ;
Cantor, Anna ;
Haley, Jeremy S. ;
Cook, Adam ;
Hill, Wesley ;
Schwartz, Alan L. ;
Grayson, Peter C. ;
Ferrada, Marcela A. ;
Kastner, Daniel L. ;
Carey, David J. ;
Stewart, Douglas R. .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2023, 329 (04) :318-324
[2]   Recurrent Mutations of the Active Adenylation Domain of UBA1 in Atypical Form of VEXAS Syndrome [J].
Faurel, Alyx ;
Heiblig, Mael ;
Kosmider, Olivier ;
Cornillon, Jerome ;
Boudou, Laurence ;
Guyotat, Denis ;
Jean-Alain, Martignoles ;
Jamilloux, Yvan ;
Noyel, Pauline ;
Daguenet, Elisabeth ;
Anne-Camille, Faure ;
Sujobert, Pierre ;
Flandrin-Gresta, Pascale .
HEMASPHERE, 2023, 7 (04)
[3]   Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis [J].
Ferrada, Marcela A. ;
Savic, Sinisa ;
Cardona, Daniela Ospina ;
Collins, Jason C. ;
Alessi, Hugh ;
Gutierrez-Rodrigues, Fernanda ;
Kumar, Dinesh Babu Uthaya ;
Wilson, Lorena ;
Goodspeed, Wendy ;
Topilow, James S. ;
Paik, Julie J. ;
Poulter, James A. ;
Kermani, Tanaz A. ;
Koster, Matthew J. ;
Warrington, Kenneth J. ;
Cargo, Catherine ;
Tattersall, Rachel S. ;
Duncan, Christopher J. A. ;
Cantor, Anna ;
Hoffmann, Patrycja ;
Payne, Elspeth M. ;
Bonnekoh, Hanna ;
Krause, Karoline ;
Cowen, Edward W. ;
Calvo, Katherine R. ;
Patel, Bhavisha A. ;
Ombrello, Amanda K. ;
Kastner, Daniel L. ;
Young, Neal S. ;
Werner, Achim ;
Grayson, Peter C. ;
Beck, David B. .
BLOOD, 2022, 140 (13) :1496-1506
[4]   Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients [J].
Georgin-Lavialle, S. ;
Terrier, B. ;
Guedon, A. F. ;
Heiblig, M. ;
Comont, T. ;
Lazaro, E. ;
Lacombe, V ;
Terriou, L. ;
Ardois, S. ;
Bouaziz, J-D ;
Mathian, A. ;
Le Guenno, G. ;
Aouba, A. ;
Outh, R. ;
Meyer, A. ;
Roux-Sauvat, M. ;
Ebbo, M. ;
Zhao, L. P. ;
Bigot, A. ;
Jamilloux, Y. ;
Guillotin, V ;
Flamarion, E. ;
Henneton, P. ;
Vial, G. ;
Jachiet, V ;
Rossignol, J. ;
Vinzio, S. ;
Weitten, T. ;
Vinit, J. ;
Deligny, C. ;
Humbert, S. ;
Samson, M. ;
Magy-Bertrand, N. ;
Moulinet, T. ;
Bourguiba, R. ;
Hanslik, T. ;
Bachmeyer, C. ;
Sebert, M. ;
Kostine, M. ;
Bienvenu, B. ;
Biscay, P. ;
Liozon, E. ;
Sailler, L. ;
Chasset, F. ;
Audemard-Verger, A. ;
Duroyon, E. ;
Sarrabay, G. ;
Borlot, F. ;
Dieval, C. ;
Cluzeau, T. .
BRITISH JOURNAL OF DERMATOLOGY, 2022, 186 (03) :564-574
[5]   UBA1 Screening in Sweet Syndrome With Hematological Neoplasms Reveals a Novel Association Between VEXAS and Chronic Myelomonocytic Leukemia [J].
Gurnari, Carmelo ;
Mannion, Peter ;
Pandit, Ishani ;
Pagliuca, Simona ;
Voso, Maria Teresa ;
Maciejewski, Jaroslaw P. ;
Visconte, Valeria ;
Rogers, Heesun J. .
HEMASPHERE, 2022, 6 (10)
[6]   Genetics of somatic auto-inflammatory disorders [J].
Poulter, James A. ;
Savic, Sinisa .
SEMINARS IN HEMATOLOGY, 2021, 58 (04) :212-217
[7]   Novel somatic mutations in UBA1 as a cause of VEXAS syndrome [J].
Poulter, James A. ;
Collins, Jason C. ;
Cargo, Catherine ;
De Tute, Ruth M. ;
Evans, Paul ;
Cardona, Daniela Ospina ;
Bowen, David T. ;
Cunnington, Joanna R. ;
Baguley, Elaine ;
Quinn, Mark ;
Green, Michael ;
McGonagle, Dennis ;
Beck, David B. ;
Werner, Achim ;
Savic, Sinisa .
BLOOD, 2021, 137 (26) :3676-3681