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Clinical Manifestations in Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic (VEXAS) Syndrome: A Narrative Review.

Authors :
Padureanu V
MarinaČ™ CM
Bobirca A
Padureanu R
Patrascu S
Dascalu AM
Bobirca F
Tribus L
Alexandru C
Serboiu C
Dumitrascu C
Musetescu A
Source :
Cureus [Cureus] 2024 Jan 27; Vol. 16 (1), pp. e53041. Date of Electronic Publication: 2024 Jan 27 (Print Publication: 2024).
Publication Year :
2024

Abstract

The newly identified refractory adult-onset autoinflammatory syndrome known as VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is brought on by somatic mutations in the ubiquitin-like modifier-activating enzyme 1 (UBA1) gene in hematopoietic stem and progenitor cells that change the expression of the UBA1 isoform. As a result, patients have a variety of hematologic and systemic inflammatory symptoms. All types of medical professionals should treat VEXAS syndrome seriously due to the high fatality rate. To better comprehend the condition and enhance the prognosis for VEXAS syndrome, this review article describes the essential traits and clinical signs of the condition. The discussion of future directions in the study of systemic inflammatory disorders brought on by somatic mutations concludes.<br />Competing Interests: The authors have declared that no competing interests exist.<br /> (Copyright © 2024, Padureanu et al.)

Details

Language :
English
ISSN :
2168-8184
Volume :
16
Issue :
1
Database :
MEDLINE
Journal :
Cureus
Publication Type :
Academic Journal
Accession number :
38410307
Full Text :
https://doi.org/10.7759/cureus.53041