舒洲, 毛华伟. 免疫出生错误基于发病机制的精准治疗[J]. 罕见病研究, 2022, 1(3): 245-251. DOI: 10.12376/j.issn.2097-0501.2022.03.004
引用本文: 舒洲, 毛华伟. 免疫出生错误基于发病机制的精准治疗[J]. 罕见病研究, 2022, 1(3): 245-251. DOI: 10.12376/j.issn.2097-0501.2022.03.004
SHU Zhou, MAO Huawei. Pathogenesis based Precision Therapy for Inborn Errors of Immunity[J]. Journal of Rare Diseases, 2022, 1(3): 245-251. DOI: 10.12376/j.issn.2097-0501.2022.03.004
Citation: SHU Zhou, MAO Huawei. Pathogenesis based Precision Therapy for Inborn Errors of Immunity[J]. Journal of Rare Diseases, 2022, 1(3): 245-251. DOI: 10.12376/j.issn.2097-0501.2022.03.004

免疫出生错误基于发病机制的精准治疗

Pathogenesis based Precision Therapy for Inborn Errors of Immunity

  • 摘要: 精准医学是通过分析疾病发病机制寻找特异生物学标志物,并进行靶向治疗的学科。免疫出生错误是一类单基因突变导致的疾病,是研究免疫学机制的适宜人体模型。近年来随着科技日新月异,人类对免疫出生错误的临床表现型与基因型、基因型与特定靶点的认识越来越清楚,因此,为临床医务人员按照精准医学的原则诊断和治疗此类疾病提供了机遇。目前,针对免疫出生错误的精准治疗已有很多成功的范例,具有治疗疾病本质的优点。本文着重阐述了几类免疫出生错误病的精准治疗。

     

    Abstract: Precision medicine aims at using target therapy on specific diseases by studying the pathogenesis and finding biomarkers. Inborn errors of immunity (IEI) are caused by single gene mutations, providing the perfect human models to study immunology. The technology rapidly developes recently, so scientists have a deeper understandings of the phenotypes, genotypes, and the biological targets, so that doctors are able to use precision medicine on IEIs with many successful cases. The precision medicine have advantages in the treatment of pathogenesis of diseases. This article summarizes successful cases of using precision medicine for IEI recently.

     

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