Related Experiment Video For auto-inflammatory syndromes
Updated: Jan 7, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
A Vexing Diagnosis: ENT Presentation of Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) Syndrome
Courtney Wilson1, James Nightingale2, Hershil Khatri3
1College of Medicine, Princess Alexandra Hospital, Brisbane, AUS.
Abstract:
We report a novel manifestation of Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome characterized by deep neck space involvement in a 75-year-old male. A diagnosis of VEXAS syndrome was established through genetic testing, which revealed variants in the UBA1 and DNMT3A genes following a collaborative multidisciplinary approach. This case highlights a novel syndrome for the ENT surgeon and represents the first case report of deep neck space involvement. It demonstrates the heterogeneity of ENT and soft tissue manifestations of the disease and the complex clinical presentation of this emergent autoinflammatory condition.
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