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[VEXAS syndrome].

M Zeeck1,2, I Kötter1,2, M Krusche3

  • 1Sektion für Rheumatologie und Entzündliche Systemerkrankungen, Universitätsklinikum Hamburg-Eppendorf (UKE), Martinistr. 52, 20246, Hamburg, Deutschland.

Zeitschrift Fur Rheumatologie
|February 18, 2022
PubMed
Summary
This summary is machine-generated.

VEXAS syndrome, a recently identified autoinflammatory disease, results from somatic UBA1 gene mutations and predominantly affects men. This overview details its vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) characteristics and clinical presentation.

Keywords:
AutoinflammationMyelodysplastic syndromePolychondritisSomatic mutationVacuoles

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Area of Science:

  • Genetics
  • Immunology
  • Pathology

Context:

  • VEXAS syndrome is a newly recognized autoinflammatory systemic disease.
  • It is caused by acquired somatic mutations in the UBA1 gene, located on the X chromosome.
  • The disease primarily affects males later in life.

Purpose:

  • To present a clinical case of VEXAS syndrome.
  • To provide an overview of the pathophysiology, clinical manifestations, and diagnostic approaches for VEXAS syndrome.

Summary:

  • VEXAS syndrome is characterized by vacuoles in bone marrow, inflammatory symptoms across hematologic, dermatologic, and rheumatologic systems.
  • The underlying cause is a somatic mutation in the UBA1 gene, affecting the E1 enzyme crucial for protein ubiquitination.
  • Clinical presentation is diverse, often overlapping with other systemic syndromes.

Impact:

  • Enhances understanding of VEXAS syndrome's genetic basis and clinical spectrum.
  • Aids clinicians in diagnosing and managing this complex autoinflammatory condition.
  • Contributes to the growing knowledge of somatic mutations in autoinflammatory diseases.