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

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2023年

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

页数：5

共 7 条

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[5] UBA1 Screening in Sweet Syndrome With Hematological Neoplasms Reveals a Novel Association Between VEXAS and Chronic Myelomonocytic Leukemia [J].

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[6] Genetics of somatic auto-inflammatory disorders [J].

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[7] Novel somatic mutations in UBA1 as a cause of VEXAS syndrome [J].

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