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October 22, 2025Journal of Interferon & Cytokine Research

Severe Impairment of IFN-α and IFN-γ Responses in Cells of a Patient with a Rare STAT1 Tail Segment Domain Mutation

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Authors

JXJing XiaoJQJie Qiu

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Overview

Analysis reveals severe impairment of interferon responses in a patient with STAT1 mutation, suggesting importance of genetic screening for mycobacterial infections.

Key Points

  • Mutant cells showed significant impairment in interferon signaling due to the STAT1 mutation.
  • Clinical tests indicated elevated inflammatory markers, including C-reactive protein, post-infection.
  • Whole-exome sequencing confirmed a pathogenic STAT1 mutation linked to mycobacterial osteomyelitis.
  • Antibiotic therapy led to full clinical resolution, emphasizing its role in managing the infection.

Cite This Study

Xiao et al. (2025) studied this question.

synapsesocial.com/papers/68f8f9e5214ee87357aabd3ahttps://doi.org/10.1177/10799907251389756
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  4. 4Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review2021 · 92 citations
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