Macrocytic anemia and polychondritis : VEXAS syndrome
© 2023. The Author(s)..
An adult-onset autoinflammatory syndrome caused by somatic mutations in the UBA1 gene on the X chromosome was first reported in 2020. This VEXAS syndrome (acronym for vacuoles, E1 enzyme, X‑linked, autoinflammatory, somatic) is characterized by an overlap of rheumatic inflammatory diseases with separate hematologic abnormalities. A substantial number of affected patients suffer from treatment refractory relapsing polychondritis and nearly always show signs of macrocytic anemia. This case report illustrates the diagnostic key points to recognizing patients with VEXAS syndrome.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:83 |
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| Enthalten in: |
Zeitschrift fur Rheumatologie - 83(2024), 3 vom: 24. März, Seite 229-233 |
| Sprache: |
Deutsch |
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| Weiterer Titel: |
Makrozytäre Anämie und Polychondritis: VEXAS-Syndrom |
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| Beteiligte Personen: |
Zeisbrich, Markus [VerfasserIn] |
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| Links: |
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| Themen: |
Autoinflammation |
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| Anmerkungen: |
Date Completed 28.03.2024 Date Revised 30.03.2024 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1007/s00393-023-01318-5 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
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| 520 | |a © 2023. The Author(s). | ||
| 520 | |a An adult-onset autoinflammatory syndrome caused by somatic mutations in the UBA1 gene on the X chromosome was first reported in 2020. This VEXAS syndrome (acronym for vacuoles, E1 enzyme, X‑linked, autoinflammatory, somatic) is characterized by an overlap of rheumatic inflammatory diseases with separate hematologic abnormalities. A substantial number of affected patients suffer from treatment refractory relapsing polychondritis and nearly always show signs of macrocytic anemia. This case report illustrates the diagnostic key points to recognizing patients with VEXAS syndrome | ||
| 650 | 4 | |a Case Reports | |
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| 650 | 4 | |a Somatic mutation | |
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| 700 | 1 | |a Mrovecova, Pavla |e verfasserin |4 aut | |
| 700 | 1 | |a Voll, Reinhard E |e verfasserin |4 aut | |
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