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ImmunoTea: Your Immunology Podcast

ImmunoTea Episode 15 - VEXAS Syndrome

Mar 19, 2024
In this episode, Lara and Vyanka discuss the rare VEXAS syndrome with Prof Sinisa Savic, exploring its symptoms, genetic mutations, and diagnostic challenges. They also touch on the role of somatic mutations in inflammatory diseases, showcasing the importance of personalized medicine and genetic breakthroughs in disease management.
40:08

Episode guests

Podcast summary created with Snipd AI

Quick takeaways

  • VEXAS Syndrome is a rare inflammatory disorder in elderly patients with acquired genetic changes affecting immune and hematological systems.
  • Understanding somatic mutations in UBA1 gene leading to VEXAS helps diagnose and explore targeted treatment options for inflammatory manifestations.

Deep dives

VEXAS: Understanding the Newly Discovered Inflammatory Disorder

VEXAS is a rare inflammatory disorder primarily affecting elderly patients due to acquired changes in genetic codes that lead to disease pathogenesis. The name VEXAS stands for vacuoles, E for E1 ubiquitin enzyme, X for X-linked gene, A for auto-inflammatory features, and S for somatic mutations. The disorder presents with nonspecific inflammatory manifestations like fever, weight loss, and malaise, along with hematological issues like anemia and thrombotic events, often resembling myelodysplastic syndrome.

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