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Updated: Jun 13, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
[A CASE OF VACUOLES, E1 ENZYME, X-LINKED, AUTOINFLAMMATORY, SOMATIC (VEXAS) SYNDROME PRESENTING WITH DIVERSE
Kyoko Matsui1, Masamitsu Hamakawa1, Hiroshi Takahashi1
1Department of Respiratory Medicine, Kurashiki Central Hospital.
Abstract:
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an autoinflammatory disease caused by somatic mutations in the ubiquitin-like modifier activating enzyme 1 gene located on the X chromosome. Due to its diverse clinical manifestations, it is often misdiagnosed as other conditions, particularly relapsing polychondritis (RP), with which it shares several clinical features, complicating the differential diagnosis. Unlike RP, however, VEXAS syndrome is characterized by dynamic and variable pulmonary lesions that can serve as a diagnostic clue. Here we report the case of a 75-year-old male patient who presented with ocular, skin, cartilage, and pulmonary lesions, as well as macrocytic anemia, during the treatment process for fever of unknown origin. The patient was initially diagnosed with eosinophilic pneumonia and RP. However, UBA1 analysis identified a missense variant, NM_003334.3: c.122T>C p.Met41Thr, leading to the diagnosis of VEXAS syndrome. When unexplained pulmonary lesions are observed in patients diagnosed with RP, the possibility of VEXAS syndrome should be considered.
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