人工智能在免疫识别和管理的先天性错误中的应用:过去,现在和未来-一个系统性审查
Ivan Taietti1,2, Martina Votto1,2, Marta Colaneri3,4
1Pediatric Unit, Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, 27100 Pavia, Italy.
Journal of clinical medicine
|September 13, 2025
概括
人工智能 (AI) 通过分析复杂的数据,提高准确性和速度,帮助诊断先天性免疫错误 (IEI). 这项技术有望更早地发现这些罕见的遗传疾病,并为这些罕见的遗传疾病提供个性化治疗.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 遗传学是一种遗传学.
- 医疗信息学 医疗信息学
背景情况:
- 免疫的先天性错误 (IEI) 是影响免疫功能的各种遗传疾病,具有不同的临床表现.
- 在IEI诊断方面的挑战包括临床异质性,有限的认识,以及缺乏通用诊断测试.
- 目前的基因测试是有效的,但昂贵和复杂,需要先进的诊断方法.
研究的目的:
- 系统地审查人工智能 (AI) 技术在免疫天生的错误 (IEI) 的诊断和治疗中的应用.
- 评估AI在改善儿童和成人群体IEI诊断准确性和临床决策方面的有效性.
主要方法:
- 进行了对四个主要数据库 (PubMed,Scopus,Web of Science,Embase) 的系统审查.
- 包括在IEI诊断和治疗中对AI进行同行评审的英语出版的研究.
- 分析了23个回顾性/前性研究和临床试验.
主要成果:
- 人工智能方法在识别IEI时表现出高的诊断准确性.
- 人工智能工具改善了对病原性突变的检测,并有效地预测了临床结果.
- 人工智能集成了电子健康记录,临床,免疫和遗传数据,加速诊断和支持个性化治疗.
结论:
- 人工智能技术为IEI的早期检测和管理提供了巨大的潜力,减少了诊断延迟和医疗保健成本.
- 人工智能提高了诊断准确度,并支持IEI的个性化治疗策略.
- 解决数据偏差和方法不一致等局限性对于IEI中AI的更广泛的临床应用至关重要.
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