WES and RNA-Seq data of a Patient with Type I interferonopathy
收藏DataCite Commons2025-04-27 更新2025-04-16 收录
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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.
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Science Data Bank
创建时间：
2025-02-28
