Department of Rheumatology, The Second Affiliated Hospital of Guangzhou Medical University, Guangzhou Medical University, Guangzhou, Guangdong, People's Republic of China.
Department of Otolaryngology, The Second Affiliated Hospital of Guangzhou Medical University, Guangzhou Medical University, Guangzhou, Guangdong, China.
Mol Med. 2024 Sep 17;30(1):152. doi: 10.1186/s10020-024-00922-8.
VEXAS syndrome, an uncommon yet severe autoimmune disorder stemming from a mutation in the UBA1 gene, is the focus of this paper. The overview encompasses its discovery, epidemiological traits, genetic underpinnings, and clinical presentations. Delving into whether distinct genotypes yield varied clinical phenotypes in VEXAS patients, and the consequent adjustment of treatment strategies based on genotypic and clinical profiles necessitates thorough exploration within the clinical realm. Additionally, the current therapeutic landscape and future outlook are examined, with particular attention to the potential therapeutic roles of IL-6 inhibitors and JAK inhibitors, alongside an elucidation of prevailing limitations and avenues for further research. This study contributes essential theoretical groundwork and clinical insights for both diagnosing and managing VEXAS syndrome.
VEXAS 综合征，一种罕见但严重的自身免疫性疾病，源于 UBA1 基因突变，是本文的研究重点。本文概述了它的发现、流行病学特征、遗传基础和临床表现。深入研究不同基因型是否在 VEXAS 患者中产生不同的临床表型，以及根据基因型和临床特征调整治疗策略的必要性，需要在临床领域进行深入探讨。此外，还研究了当前的治疗现状和未来展望，特别关注 IL-6 抑制剂和 JAK 抑制剂的潜在治疗作用，同时阐明了当前存在的局限性和进一步研究的方向。本研究为 VEXAS 综合征的诊断和治疗提供了重要的理论基础和临床见解。
