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EBMT 2025 | The biology and features of VEXAS syndrome
Carmelo Gurnari, MD, University of Rome Tor Vergata, Rome, Italy, and Cleveland Clinic, Cleveland, OH, discusses the biology of VEXAS syndrome, a recently discovered entity characterized by both hematological and rheumatological features. VEXAS is caused by a somatic mutation of the UBA1 gene leading to hyperinflammation and hypercytokinemia. In around half of cases, patients with VEXAS are also diagnosed with myelodysplastic syndrome (MDS), opening up opportunities for therapeutic approaches such as transplantation. This interview took place at the 51st Annual Meeting of the EBMT in Florence, Italy.
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Transcript
So VEXAS syndrome is a newly discovered disorder that is characterized by both hematological and rheumatological features. It’s been discovered only in 2020, so we know very little so far, but most that has been discovered pertains to its biological underpinnings. In particular, we know that VEXAS is due to somatic, so not inherited but acquired during the lifespan, a somatic mutation of the UBA1 gene...
So VEXAS syndrome is a newly discovered disorder that is characterized by both hematological and rheumatological features. It’s been discovered only in 2020, so we know very little so far, but most that has been discovered pertains to its biological underpinnings. In particular, we know that VEXAS is due to somatic, so not inherited but acquired during the lifespan, a somatic mutation of the UBA1 gene. And this gene is responsible for encoding the E1 enzyme and ultimately for controlling the ubiquitination system of the cell. Perturbation of these systems leads to hyperinflammation and hypercytokinemia that is typical of patients with VEXAS, that have auto-inflammatory symptoms and, in particular, also anemia, which is what hematologists care about. Also, patients with VEXAS are often diagnosed with myelodysplastic syndrome in about half of cases. And this obviously opens up opportunities such as therapeutic implications like transplant in eligible cases and therapeutic strategies that are borrowed from the myelodysplastic syndrome realm.
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