信号转导子和转录激活子及 Janus 激酶信号异常导致的人类疾病。
Human diseases caused by impaired signal transducer and activator of transcription and Janus kinase signaling.
机构信息
Section of Immunology, Allergy and Retrovirology, Department of Pediatrics, Baylor College of Medicine, William T. Shearer Center for Human Immunobiology, Texas Children's Hospital, Houston, Texas, USA.
出版信息
Curr Opin Pediatr. 2019 Dec;31(6):843-850. doi: 10.1097/MOP.0000000000000841.
PURPOSE OF REVIEW
The Janus kinase (JAK) and signal transducer of activation (STAT) pathway plays a key role in the immune system. It is employed by diverse cytokines, interferons, growth factors and related molecules. Mutations in JAK/STAT pathway have been implicated in human disease. Here we review JAK/STAT biology and diseases associated with mutations in this pathway.
RECENT FINDINGS
Over the past 10 years, many mutations in JAK/STAT pathway has been discovered. These disorders have provided insights to human immunology.
SUMMARY
In this review, we summarize the biology of each STAT and JAK as well as discuss the human disease that results from somatic or germline mutations to include typical presentation, immunological parameters and treatment.
目的综述
Janus 激酶（JAK）和信号转导与转录激活因子（STAT）通路在免疫系统中发挥着关键作用。它被多种细胞因子、干扰素、生长因子和相关分子所利用。JAK/STAT 通路的突变与人类疾病有关。在这里，我们综述 JAK/STAT 的生物学以及与该通路突变相关的疾病。
最近的发现
在过去的 10 年中，已经发现了 JAK/STAT 通路中的许多突变。这些疾病为人类免疫学提供了新的见解。
总结
在本综述中，我们总结了每个 STAT 和 JAK 的生物学特性，并讨论了由体细胞或种系突变引起的人类疾病，包括典型表现、免疫学参数和治疗方法。
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