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在NLRP12中的致病变体与自身炎症疾病之间的关联:全面的系统性审查
Nasimeh Vatandoost1,2, Sajjad Biglari1, Tayebeh Ranjbarnejad1
1Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
International journal of immunogenetics
|June 25, 2025
概括
识别NLRP12基因变异对于诊断NLRP12相关的自身炎症性疾病 (NLRP12-AID) 至关重要. 本综述强调了多样化的临床特征,并强调对不分化的复发性发烧进行遗传评估,以改善诊断.
科学领域:
- 遗传学 遗传学 是一个
- 免疫学 免疫学 免疫学
- 类风湿病学 类风湿病学
背景情况:
- 系统性自身炎症性疾病 (SAID) 是一种罕见的遗传性免疫疾病.
- 在NLRP12基因中的致病变异与自身炎症综合征有关.
- 与NLRP12相关的自身炎症性疾病 (NLRP12-AID) 需要准确的诊断.
研究的目的:
- 确定NLRP12基因中的因果变异.
- 讨论NLRP12-AID的发病,临床特征和治疗方法.
- 评估NLRP12变异在差异诊断中的作用.
主要方法:
- 使用EMBASE,Scopus,ScienceDirect,Web of Science和PubMed进行系统的文献审查.
- 分析了874篇文章,其中27篇符合纳入标准.
- 鉴定和分类NLRP12基因变异.
主要成果:
- 报告了103名患有NLRP12变异的患者;确定了60种变异 (49种VUS,致病性或可能致病性).
- 发病的平均年龄:13.18岁;发烧 (90%),皮疹/疹 (59%),肌痛/关节痛 (39%),腹痛/腹 (50%).
- 影响肌肉骨和胃肠道系统的各种临床特征,与家族感冒自发炎症综合征 (FCAS) 重叠.
结论:
- NLRP12-AID呈现出各种症状,并且由于表达变化和不完全透,可能会被误诊.
- 对于患有未分化的复发性发烧的患者,建议对NLRP12进行遗传评估.
- 了解NLRP12变体有助于对自身炎症性疾病的差异诊断和管理.
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