VEXAS syndrome: a diagnostic puzzle
The VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is an adult-onset systemic autoinflammatory condition that is caused by an acquired deficiency of the UBA1 gene in hematopoietic progenitor cells. The clinical spectrum of the VEXAS syndrome currently comprises a broad ran...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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BMJ Publishing Group
2023-07-01
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| Series: | RMD Open |
| Online Access: | https://rmdopen.bmj.com/content/9/3/e003332.full |
| _version_ | 1797640032893272064 |
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| author | Martin Krusche Nikolas Ruffer |
| author_facet | Martin Krusche Nikolas Ruffer |
| author_sort | Martin Krusche |
| collection | DOAJ |
| description | The VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is an adult-onset systemic autoinflammatory condition that is caused by an acquired deficiency of the UBA1 gene in hematopoietic progenitor cells. The clinical spectrum of the VEXAS syndrome currently comprises a broad range of phenotypes such as vasculitis, relapsing polychondritis and Sweet’s syndrome. In the past, VEXAS patients have left clinicians puzzled and the true nature of this disease has not been captured until late 2020. This viewpoint describes the relevant clinical features of the VEXAS syndrome and reviews different approaches to establish the diagnosis. Finally, future directions within the field of systemic inflammatory diseases caused by somatic mutations are being discussed. |
| first_indexed | 2024-03-11T13:26:06Z |
| format | Article |
| id | doaj.art-0f62d31b9cfe4ddba612b2a525fa147a |
| institution | Directory Open Access Journal |
| issn | 2056-5933 |
| language | English |
| last_indexed | 2024-03-11T13:26:06Z |
| publishDate | 2023-07-01 |
| publisher | BMJ Publishing Group |
| record_format | Article |
| series | RMD Open |
| spelling | doaj.art-0f62d31b9cfe4ddba612b2a525fa147a2023-11-03T06:50:08ZengBMJ Publishing GroupRMD Open2056-59332023-07-019310.1136/rmdopen-2023-003332VEXAS syndrome: a diagnostic puzzleMartin Krusche0Nikolas Ruffer1III. Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, GermanyIII. Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, GermanyThe VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is an adult-onset systemic autoinflammatory condition that is caused by an acquired deficiency of the UBA1 gene in hematopoietic progenitor cells. The clinical spectrum of the VEXAS syndrome currently comprises a broad range of phenotypes such as vasculitis, relapsing polychondritis and Sweet’s syndrome. In the past, VEXAS patients have left clinicians puzzled and the true nature of this disease has not been captured until late 2020. This viewpoint describes the relevant clinical features of the VEXAS syndrome and reviews different approaches to establish the diagnosis. Finally, future directions within the field of systemic inflammatory diseases caused by somatic mutations are being discussed.https://rmdopen.bmj.com/content/9/3/e003332.full |
| spellingShingle | Martin Krusche Nikolas Ruffer VEXAS syndrome: a diagnostic puzzle RMD Open |
| title | VEXAS syndrome: a diagnostic puzzle |
| title_full | VEXAS syndrome: a diagnostic puzzle |
| title_fullStr | VEXAS syndrome: a diagnostic puzzle |
| title_full_unstemmed | VEXAS syndrome: a diagnostic puzzle |
| title_short | VEXAS syndrome: a diagnostic puzzle |
| title_sort | vexas syndrome a diagnostic puzzle |
| url | https://rmdopen.bmj.com/content/9/3/e003332.full |
| work_keys_str_mv | AT martinkrusche vexassyndromeadiagnosticpuzzle AT nikolasruffer vexassyndromeadiagnosticpuzzle |