PDF(Pubmed)
Abstract：
The discovery of Suppressor of Cytokine Signaling 1 (SOCS1) in 1997 marked a significant milestone in understanding the regulation of Janus kinase/Signal transducer and activator of transcription (JAK/STAT) signaling pathways. Subsequent research deciphered its cellular functions, and recent insights into SOCS1 deficiencies in humans underscored its critical role in immune regulation. In humans, SOCS-haploinsufficiency (SOCS1-HI) presents a diverse clinical spectrum, encompassing autoimmune diseases, infection susceptibility, and cancer. Variability in disease manifestation, even within families sharing the same genetic variant, raises questions about clinical penetrance and the need for individualized treatments. Current therapeutic strategies include JAK inhibition, with promising results in controlling inflammation in SOCS1-HI patients. Hematopoietic stem cell transplantation and gene therapy emerge as promising avenues for curative treatments. The evolving landscape of SOCS1 research, emphasizes the need for a nuanced understanding of genetic variants and their functional consequences.
摘要：
1997年发现细胞因子信号抑制因子1（SOCS1）标志着理解Janus激酶/信号转导和转录激活因子（JAK/STAT）信号通路调节的重要里程碑。随后的研究破译了它的细胞功能，最近对人类SOCS1缺陷的见解强调了其在免疫调节中的关键作用。在人类中,SOCS-单倍体功能不全(SOCS1-HI)呈现多样化的临床谱,包括自身免疫性疾病，感染易感性，和癌症。疾病表现的变异性，即使在有相同遗传变异的家庭中，提出了有关临床外显率和个性化治疗需求的问题。目前的治疗策略包括JAK抑制，在控制SOCS1-HI患者的炎症方面取得了有希望的结果。造血干细胞移植和基因治疗成为治愈性治疗的有希望的途径。SOCS1研究的演变格局，强调需要对遗传变异及其功能后果进行细致的理解。
