应对 VEXAS 综合征的治疗挑战:探索最前沿的 IL-6 和 JAK 抑制剂

IF 6 2区 医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Molecular Medicine Pub Date : 2024-09-17 DOI:10.1186/s10020-024-00922-8
Xiao Xiao Li, Wen Hui Huang, Xiao Bin Yang, Qi Lin Yang, Yu Zheng, Yong Bao Huo, Ting Ting Xie, Cheng Hui Huang, Shui Lian Yu
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引用次数: 0

摘要

VEXAS 综合征是一种因 UBA1 基因突变而导致的罕见但严重的自身免疫性疾病,是本文的重点。本文概述了该疾病的发现、流行病学特征、遗传基础和临床表现。要深入研究不同基因型是否会导致 VEXAS 患者出现不同的临床表型,并根据基因型和临床特征调整治疗策略,就必须在临床领域进行深入探讨。此外,该研究还探讨了当前的治疗前景和未来展望,尤其关注 IL-6 抑制剂和 JAK 抑制剂的潜在治疗作用,同时阐明了当前的局限性和进一步研究的途径。本研究为诊断和管理 VEXAS 综合征提供了重要的理论基础和临床见解。
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Navigating therapeutic challenges in VEXAS syndrome: exploring IL-6 and JAK inhibitors at the forefront
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.
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来源期刊
Molecular Medicine
Molecular Medicine 医学-生化与分子生物学
CiteScore
8.60
自引率
0.00%
发文量
137
审稿时长
1 months
期刊介绍: Molecular Medicine is an open access journal that focuses on publishing recent findings related to disease pathogenesis at the molecular or physiological level. These insights can potentially contribute to the development of specific tools for disease diagnosis, treatment, or prevention. The journal considers manuscripts that present material pertinent to the genetic, molecular, or cellular underpinnings of critical physiological or disease processes. Submissions to Molecular Medicine are expected to elucidate the broader implications of the research findings for human disease and medicine in a manner that is accessible to a wide audience.
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