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Mutant UBA1 and Severe Adult-Onset Autoinflammatory Disease

Mutant UBA1 and Severe Adult-Onset Autoinflammatory Disease

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2536801290

Mutant UBA1 and Severe Adult-Onset Autoinflammatory Disease

About this item

Full title

Mutant UBA1 and Severe Adult-Onset Autoinflammatory Disease

Publisher

Boston: Massachusetts Medical Society

Journal title

The New England journal of medicine, 2021-06, Vol.384 (22), p.2163-2165

Language

English

Formats

Publication information

Publisher

Boston: Massachusetts Medical Society

More information

Scope and Contents

Contents

To the Editor:
Beck and colleagues (Dec. 31 issue)
1
describe a new autoinflammatory disorder named the VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome exclusively in male patients showing somatic mutations in
UBA1
. We report here the occurrence of the VEXAS syndrome in two female patients. An 87-year-old w...

Alternative Titles

Full title

Mutant UBA1 and Severe Adult-Onset Autoinflammatory Disease

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_2536801290

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2536801290

Other Identifiers

ISSN

0028-4793

E-ISSN

1533-4406

DOI

10.1056/NEJMc2102124

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