VEXAS syndrome: a report of three cases
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023728%3A_____%2F22%3AN0000079" target="_blank" >RIV/00023728:_____/22:N0000079 - isvavai.cz</a>
Result on the web
<a href="https://doi.org/10.55563/clinexprheumatol/3z07e9" target="_blank" >https://doi.org/10.55563/clinexprheumatol/3z07e9</a>
DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
VEXAS syndrome: a report of three cases
Original language description
The recently described VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflam- matory, somatic) presents as a late adult-onset autoinflammatory disease often accompanied by haematological manifestations (1). The genetic background of VEXAS are somatic mutations in UBA1, an X-linked gene encod- ing enzyme initiating ubiquitination (2). The mutations result in decreased cellular ubiqui- tiation activity and lead to hyperactivation of innate immune pathways.
Czech name
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Czech description
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Classification
Type
O - Miscellaneous
CEP classification
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OECD FORD branch
30226 - Rheumatology
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2022
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů