A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibilityNovel heterozygous AIRE variant causing autosomal dominant APECED

We describe a novel heterozygous variant in AIRE in 3 individuals with mild APECED. This variant was validated as being pathogenic by a mechanism of negative dominance. This represents new cases of autosomal dominant APECED.

書誌詳細

主要な著者:	Mounavi Vemula, Bergithe E. Oftedal, Dorsa Iraji, Mélanie Migaud, Christopher Richmond, Syndia Lazarus, Jean-Laurent Casanova, Anna Sullivan, Anne Puel, Stuart G. Tangye, Alberto Pinzon-Charry
フォーマット:	Artigo
言語:	Inglês
出版事項:	Rockefeller University Press 2025-10-01
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.20250151/1951043/jhi_20250151.pdf
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