Heterogeneity of autoimmune diseases: pathophysiologic insights from genetics and implications for new therapies.
Heterogeneity of autoimmune diseases: pathophysiologic insights from genetics and implications for new therapies.
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DOI：
10.1038/nm.3897
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发表时间：
2015-07
期刊：
影响因子：
82.9
通讯作者：
Feldman M
中科院分区：
文献类型：
--
作者：
Cho JH;Feldman M
自体免疫和免疫介导性疾病全基因组关联研究的最新进展加深了我们对这些疾病致病机制的理解。这进一步突出了它们的异质性，无论是在疾病内部还是疾病之间。此外，对治疗的不同反应也强调了这种异质性在诊断和治疗这些疾病的方式中的重要性。在这里，我们讨论了目前对自身免疫的共同途径的理解，包括肿瘤坏死因子(TNF)、主要组织相容性复合体(MHC)、白介素23受体(IL23R)和蛋白酪氨酸磷酸酶非受体22型(PTPN22)途径。此外，我们总结了在主要自身免疫性疾病中测试的有效的特定治疗方法，强调了它们对疾病机制的洞察及其对未来潜在改善的影响。
Recent advances in genome-wide association studies (GWAS) across autoimmune and immune-mediated diseases have augmented our understanding of pathogenic mechanisms underlying these diseases. This has further highlighted their heterogeneous nature, both within and between diseases. Furthermore, varying responses to therapy have also served to underline the importance of this heterogeneity in the manner in which these diseases are diagnosed and treated. Here we discuss our current understanding of the shared pathways of autoimmunity, including the tumor necrosis factor (TNF), major histocompatibility complex (MHC), interleukin 23 receptor (IL23R) and protein tyrosine phosphatase non-receptor type 22 (PTPN22) pathways. In addition, we summarize effective specific therapies tested across major autoimmune diseases, highlighting the insight they have provided into disease mechanisms and their implications for potential future improvements.
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