Novel somatic mutations in UBA1 as a cause of VEXAS syndrome

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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Bibliographische Detailangaben
Veröffentlicht in:Blood 2021-07, Vol.137 (26), p.3676-3681
Hauptverfasser: 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: Artikel
Sprache:eng
Schlagworte:
Humans
Immunobiology and Immunotherapy
Letter to Blood
Mutation
Phagocytes, Granulocytes, and Myelopoiesis
Syndrome
Ubiquitin-Activating Enzymes - genetics
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Beschreibung
Zusammenfassung: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.
ISSN:0006-4971
1528-0020
DOI:10.1182/blood.2020010286