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[VEXAS syndrome].

M Krusche1, N Ruffer2, I Kötter2,3

  • 1Sektion für Rheumatologie und Entzündliche Systemerkrankungen in der III. Medizin, Universitätsklinikum Hamburg-Eppendorf (UKE), Hamburg, Deutschland. m.krusche@uke.de.

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|September 17, 2025
PubMed
Summary
This summary is machine-generated.

VEXAS syndrome is an acquired autoinflammatory disease caused by somatic UBA1 mutations. This hematoinflammatory condition presents with systemic inflammation and organ involvement, often resistant to standard treatments, leading to high morbidity and mortality.

Keywords:
Autoinflammatory diseaseGeneral vegetative symptomsHematoinflammatory diseaseInflammatory systemic diseaseOrgan manifestations

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Area of Science:

  • Hematology
  • Immunology
  • Genetics

Background:

  • VEXAS (vacuoles, E1 enzyme, X‑linked, autoinflammatory, somatic) syndrome is an acquired autoinflammatory disease.
  • It is characterized by somatic mutations in the UBA1 gene, classifying it as a hematoinflammatory disorder.

Purpose of the Study:

  • To describe the clinical and molecular characteristics of VEXAS syndrome.
  • To highlight the challenges in managing this refractory inflammatory condition.

Main Methods:

  • This abstract is based on a description of VEXAS syndrome.
  • Clinical case reviews and genetic analysis of UBA1 mutations are implied.

Main Results:

  • VEXAS syndrome presents as a systemic inflammatory disease with vegetative symptoms.
  • Organ manifestations commonly affect the skin, lungs, and hematopoietic system.
  • Symptoms are frequently refractory to conventional anti-inflammatory therapies.

Conclusions:

  • VEXAS syndrome is associated with significant morbidity and mortality.
  • Understanding the UBA1 gene's role is crucial for diagnosis and potential therapeutic strategies.