S56F UBA1 variant is associated with haematological predominant subtype of VEXAS

Adam Al-Hakim,Austin Kulasekararaj, Mohsen Norouzi, Ruth Medlock, Fraser Patrick,Catherine Cargo,Sinisa Savic

British journal of haematology(2023)

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British Journal of HaematologyEarly View LETTER TO THE EDITOR S56F UBA1 variant is associated with haematological predominant subtype of VEXAS Adam Al-Hakim, Adam Al-Hakim Department of Clinical Immunology and Allergy, St James's University Hospital, Leeds, UKSearch for more papers by this authorAustin Kulasekararaj, Austin Kulasekararaj orcid.org/0000-0003-3180-3570 NIHR/Wellcome King's Clinical Research Facility, King's College Hospital-NHS Foundation Trust, London, UKSearch for more papers by this authorMohsen Norouzi, Mohsen Norouzi James Cook University Hospital, Middlesbrough, UKSearch for more papers by this authorRuth Medlock, Ruth Medlock Doncaster and Bassetlaw Teaching Hospitals NHS Foundation Trust, Doncaster, UKSearch for more papers by this authorFraser Patrick, Fraser Patrick Inverclyde Royal Hospital, Greenock, UKSearch for more papers by this authorCatherine Cargo, Catherine Cargo Haematological Malignancy Diagnostic Service, St James's University Hospital, Leeds, UKSearch for more papers by this authorSinisa Savic, Corresponding Author Sinisa Savic [email protected] orcid.org/0000-0001-7910-0554 Department of Clinical Immunology and Allergy, St James's University Hospital, Leeds, UK Leeds Institute of Rheumatic and Musculoskeletal Medicine, St James's University Hospital, Leeds, UK Correspondence Sinisa Savic, Leeds Institute of Rheumatic and Musculoskeletal Medicine, Clinical Science Building, Beckett Street, Leeds LS9 7TF, UK. Email: [email protected]Search for more papers by this author Adam Al-Hakim, Adam Al-Hakim Department of Clinical Immunology and Allergy, St James's University Hospital, Leeds, UKSearch for more papers by this authorAustin Kulasekararaj, Austin Kulasekararaj orcid.org/0000-0003-3180-3570 NIHR/Wellcome King's Clinical Research Facility, King's College Hospital-NHS Foundation Trust, London, UKSearch for more papers by this authorMohsen Norouzi, Mohsen Norouzi James Cook University Hospital, Middlesbrough, UKSearch for more papers by this authorRuth Medlock, Ruth Medlock Doncaster and Bassetlaw Teaching Hospitals NHS Foundation Trust, Doncaster, UKSearch for more papers by this authorFraser Patrick, Fraser Patrick Inverclyde Royal Hospital, Greenock, UKSearch for more papers by this authorCatherine Cargo, Catherine Cargo Haematological Malignancy Diagnostic Service, St James's University Hospital, Leeds, UKSearch for more papers by this authorSinisa Savic, Corresponding Author Sinisa Savic [email protected] orcid.org/0000-0001-7910-0554 Department of Clinical Immunology and Allergy, St James's University Hospital, Leeds, UK Leeds Institute of Rheumatic and Musculoskeletal Medicine, St James's University Hospital, Leeds, UK Correspondence Sinisa Savic, Leeds Institute of Rheumatic and Musculoskeletal Medicine, Clinical Science Building, Beckett Street, Leeds LS9 7TF, UK. Email: [email protected]Search for more papers by this author First published: 15 August 2023 https://doi.org/10.1111/bjh.19021Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES 1Poulter JA, Savic S. Genetics of somatic auto-inflammatory disorders. Semin Hematol. 2021; 58(4): 212–217. https://doi.org/10.1053/J.SEMINHEMATOL.2021.10.001 2Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, et al. Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population. JAMA. 2023: 329(4): 318–324. https://doi.org/10.1001/jama.2022.24836 3Ferrada MA, Savic S, Cardona DO, Collins JC, Alessi H, Gutierrez-Rodrigues F, et al. Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis. Blood. 2022; 140(13): 1496–1506. https://doi.org/10.1182/BLOOD.2022016985 4Georgin-Lavialle S, Terrier B, Guedon AF, Heiblig M, Comont T, Lazaro E, et al. Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients. Br J Dermatol. 2022; 186(3): 564–574. https://doi.org/10.1111/BJD.20805 5Poulter JA, Collins JC, Cargo C, de Tute RM, Evans P, Ospina Cardona D, et al. Novel somatic mutations in UBA1 as a cause of VEXAS syndrome. Blood. 2021; 137(26): 3676–3681. https://doi.org/10.1182/blood.2020010286 6Gurnari C, Mannion P, Pandit I, Pagliuca S, Voso MT, Maciejewski JP, et al. UBA1 screening in sweet syndrome with hematological neoplasms reveals a novel association between VEXAS and chronic myelomonocytic leukemia. HemaSphere. 2022; 6(10):e775. https://doi.org/10.1097/HS9.0000000000000775 7Faurel A, Heiblig M, Kosmider O, Cornillon J, Boudou L, Guyotat D, et al. Recurrent mutations of the active adenylation domain of UBA1 in atypical form of VEXAS syndrome. HemaSphere. 2023; 7(4):e868. https://doi.org/10.1097/HS9.0000000000000868 Early ViewOnline Version of Record before inclusion in an issue ReferencesRelatedInformation
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haematological predominant subtype
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