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Article

Clinical Challenges of Emerging Acquired Autoinflammatory Diseases, Including VEXAS Syndrome.

Internal medicine (Tokyo, Japan) - 1 Jan 2025

Kirino Yohei

Abstract excerpt

Vacuoles, E1-ubiquitin-activating enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome, caused by an acquired mutation in the ubiquitin-activating enzyme ubiquitin-like modifier activating enzyme 1 (UBA1), was discovered in 2020. Since then, many cases have been reported worldwide. Recently, we performed UBA1 genetic testing in suspected cases of VEXAS throughout Japan and investigated the clinical...

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Identifiers

PMID: 38296470
DOI: 10.2169/internalmedicine.3219-23

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