【摘要】：作為一組單基因遺傳的免疫功能缺陷性疾病,原發(fā)性免疫缺陷病(PID)通常具有明確的致病機(jī)制和特異的干預(yù)治療靶點。近10年來新發(fā)現(xiàn)的PID病種中,相當(dāng)部分具有功能獲得性突變(GOF),臨床上常表現(xiàn)為自身免疫和炎癥反應(yīng)。小分子抑制劑或生物大分子在激活磷脂酰肌醇-3激酶δ綜合征、LPS反應(yīng)性米色錨樣蛋白缺陷、細(xì)胞毒性淋巴細(xì)胞抗原4單倍劑量不足和STAT1基因GOF等幾種疾病中均已取得顯著治療效果。上述基于精準(zhǔn)靶點的治療策略體現(xiàn)了PID作為典型適應(yīng)證,今后數(shù)年將可能為精準(zhǔn)醫(yī)學(xué)帶來突破性進(jìn)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.
【作者單位】： 重慶醫(yī)科大學(xué)附屬兒童醫(yī)院風(fēng)濕免疫科;
【分類號】：R725.9
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本文編號：2406571