Novel somatic mutations in UBA1 as a cause of VEXAS syndrome

Poulter and colleagues describe a series from the United Kingdom of 10 male patients with VEXAS syndrome, including 2 with novel genetic changes affecting methionine 41 of E1.

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Bibliographic Details
Published inBlood Vol. 137; no. 26; pp. 3676 - 3681
Main Authors Poulter, James A., Collins, Jason C., Cargo, Catherine, De Tute, Ruth M., Evans, Paul, Ospina Cardona, Daniela, Bowen, David T., Cunnington, Joanna R., Baguley, Elaine, Quinn, Mark, Green, Michael, McGonagle, Dennis, Beck, David B., Werner, Achim, Savic, Sinisa
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.07.2021
American Society of Hematology
Subjects
Humans
Immunobiology and Immunotherapy
Letter to Blood
Mutation
Phagocytes, Granulocytes, and Myelopoiesis
Syndrome
Ubiquitin-Activating Enzymes - genetics
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Summary:Poulter and colleagues describe a series from the United Kingdom of 10 male patients with VEXAS syndrome, including 2 with novel genetic changes affecting methionine 41 of E1.
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J.A.P. and J.C.C. contributed equally to this work.
ISSN:0006-4971
1528-0020
DOI:10.1182/blood.2020010286