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Can I read VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases on EtoBox?
VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases by Antonio Vitale; Valeria Caggiano; Antonio Bimonte; Federico Caroni; Gian Marco Tosi; Alessandra Fabbiani; Alessandra Renieri; Monica Bocchia; Bruno Frediani; Claudia Fabiani; Luca Cantarini is a Medicine article available to read on EtoBox.
What is VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases about?
## Abstract VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a recently described pathological entity. It is an acquired monogenic autoinflammatory disease caused by somatic mutations of the __UBA1__ gene in blood cells precursors; the gene encodes one of the two E1 enzyme isoforms that initiates ubiquitylation in cell’s cytoplasm. VEXAS syndrome leads to systemic inflammation, with all organs and tissues potentially involved. The clinical picture may be extremely heterogenous, mimicking different other systemic rheumatologic entities coexisting with haematological disorders, especially myelodysplastic syndrome. This new disease represents a very intriguing clinical condition in several respects: it accounts for the paradigm of adult-onset monogenic autoinflammatory diseases determined by a genetic mosaicism resulting in the development of a challenging multiorgan inflammatory condition. Moreover, VEXAS syndrome is perhaps not an exceptionally rare condition and represents an example of a systemic genetic autoinflammatory disease drawing its origin in bone marrow disorders. VEXAS syndrome should be strongly considered in each adult patient with an unexpl
Who reads VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases?
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- Author
- Antonio Vitale; Valeria Caggiano; Antonio Bimonte; Federico Caroni; Gian Marco Tosi; Alessandra Fabbiani; Alessandra Renieri; Monica Bocchia; Bruno Frediani; Claudia Fabiani; Luca Cantarini
- Publisher
- Springer Science and Business Media LLC
- Published
- 2023
- Language
- EN
- Field
- Medicine (Health Sciences)