Version 1
: Received: 8 October 2024 / Approved: 8 October 2024 / Online: 9 October 2024 (03:33:28 CEST)
How to cite:
Wolff, L.; Caratsch, L.; Zhao, L.-P.; Blum, S.; Comte, D. Understanding Myelodysplasia and Inflammation through the Lense of VEXAS Syndrome: A Review. Preprints2024, 2024100614. https://doi.org/10.20944/preprints202410.0614.v1
Wolff, L.; Caratsch, L.; Zhao, L.-P.; Blum, S.; Comte, D. Understanding Myelodysplasia and Inflammation through the Lense of VEXAS Syndrome: A Review. Preprints 2024, 2024100614. https://doi.org/10.20944/preprints202410.0614.v1
Wolff, L.; Caratsch, L.; Zhao, L.-P.; Blum, S.; Comte, D. Understanding Myelodysplasia and Inflammation through the Lense of VEXAS Syndrome: A Review. Preprints2024, 2024100614. https://doi.org/10.20944/preprints202410.0614.v1
APA Style
Wolff, L., Caratsch, L., Zhao, L. P., Blum, S., & Comte, D. (2024). Understanding Myelodysplasia and Inflammation through the Lense of VEXAS Syndrome: A Review. Preprints. https://doi.org/10.20944/preprints202410.0614.v1
Chicago/Turabian Style
Wolff, L., Sabine Blum and Denis Comte. 2024 "Understanding Myelodysplasia and Inflammation through the Lense of VEXAS Syndrome: A Review" Preprints. https://doi.org/10.20944/preprints202410.0614.v1
Abstract
VEXAS syndrome, a monogenic X-linked disorder resulting from mutations in the UBA1 gene, has emerged as a key model for unraveling the links between systemic inflammatory or autoimmune diseases (SIAD) and myelodysplastic syndromes (MDS). This syndrome is characterized by the presence of vacuoles, X-linked inheritance, autoinflammation and somatic mutation patterns, highlighting a unique intersection between genetic and immunological dysregulation. Apart from VEXAS, 10% to 30% of individuals diagnosed with MDS exhibit SIAD phenotypes, a significant increase compared to the 5% incidence in the general population. In this comprehensive review, we aim to elucidate the molecular mechanisms driving the pro-inflammatory environment in MDS, focusing on the contribution of VEXAS syndrome to this complex interplay. We examine how UBA1 mutations disrupt cellular homeostasis, triggering inflammatory pathways. Furthermore, we explore the broader implications of these findings for the pathogenesis of MDS, proposing that the inflammatory dysregulation of VEXAS may shed light on mechanisms of disease progression and identify potential therapeutic targets in MDS. Through an integrated analysis of genetic, immunological and clinical data, this review seeks to deepen our understanding of the complex relationship between systemic inflammation and hematological malignancies, paving the way for new diagnostic and therapeutic strategies.
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
