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Updated: Jan 16, 2026

Generation of Fluorescent Protein Fusions in Candida Species
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一名患有慢性粘膜皮质候群症的儿童在STAT1中携带了一种新的功能获取突变

Yang Xiang1, Shuo Sun2, Hong Wang2

  • 1Department of Clinical Laboratory, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, 250000, Shandong Province, P.R. China.

Journal of clinical immunology
|September 30, 2025
PubMed
概括

一种新的STAT1 (信号转换器和转录激活器1) 功能增益突变导致了儿科患者的慢性粘膜皮肤候群病 (CMC). 像ruxolitinib这样的JAK抑制剂显示出治疗这种疾病的希望.

关键词:
这是STAT1-GOF突变.慢性粘膜皮肤候群病.在真菌的敏感性.免疫力 IL-17 免疫力雅克抑制剂的使用

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