Refractory infantile IPEX with Treg-restricted FOXP3null expression caused by a novel variant in FOXP3Novel FOXP3 variant causing severe IPEX
This report outlines the clinical, genetic, and immunologic features of a novel FOXP3 missense variant causing severe, treatment-resistant IPEX in an infant, emphasizing the usefulness of quantifying TSDR-demethylated cells as an early biomarker of IPEX disease activity.
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| 主要な著者: | , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Rockefeller University Press
2026-03-01
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| シリーズ: | Journal of Human Immunity |
| オンライン･アクセス: | https://rupress.org/jhi/article-pdf/doi/10.70962/jhi.20250249/2029335/jhi_20250249.pdf |
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