WES and RNA-Seq data of a Patient with Type I interferonopathy
收藏科学数据银行2025-02-28 更新2026-04-23 收录
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资源简介：
Type I interferonopathies are a group of inherited autoinflammatory disorders characterized by dysregulation of type I interferon (IFN-I) signaling pathways. ISG15, a unique Ubiquitin-like (Ubl) modifier in the interferon-stimulated genes (ISGs) family, plays a critical role in innate immune responses induced by IFN-I. In this study, we identified a novel homozygous missense variant in ISG15 gene in a 4-month-old patient with Type I interferonopathy.
提供机构：
Institute of Basic Medical Sciences Chinese Academy of Medical Sciences; Xinyue Zhang; Chinese Academy of Medical Sciences & Peking Union Medical College
创建时间：
2025-02-25
