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原发性免疫缺陷病:精准医学的典型适应证

发布时间:2019-01-10 17:08  文章来源:笔耕文化传播
【摘要】:作为一组单基因遗传的免疫功能缺陷性疾病,原发性免疫缺陷病(PID)通常具有明确的致病机制和特异的干预治疗靶点。近10年来新发现的PID病种中,相当部分具有功能获得性突变(GOF),临床上常表现为自身免疫和炎症反应。小分子抑制剂或生物大分子在激活磷脂酰肌醇-3激酶δ综合征、LPS反应性米色锚样蛋白缺陷、细胞毒性淋巴细胞抗原4单倍剂量不足和STAT1基因GOF等几种疾病中均已取得显著治疗效果。上述基于精准靶点的治疗策略体现了PID作为典型适应证,今后数年将可能为精准医学带来突破性进展。
[Abstract]:As a group of single gene inherited immunodeficient diseases, (PID) usually has a clear pathogenetic mechanism and specific therapeutic intervention target. Among the newly discovered PID diseases in recent 10 years, many of them have functional acquired mutations (GOF),). The clinical manifestations of (GOF), are autoimmune and inflammatory response. Small molecular inhibitors or biomolecules activate phosphatidylinositol 3 kinase 未 syndrome, LPS reactive beige anchor protein defects, Significant therapeutic effects have been achieved in several diseases such as cytotoxic lymphocyte antigen 4 haplodose deficiency and STAT1 gene GOF. The above treatment strategies based on precise targets reflect the typical indications of PID and may bring about a breakthrough in precision medicine in the next few years.
【作者单位】: 重庆医科大学附属儿童医院风湿免疫科;
【分类号】:R725.9


本文编号:2406571


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