Article

Epigenetic signature at <i>FOXP3</i> distal enhancer affects regulatory T cell development in Kabuki syndrome

2026-04-11

Abstract excerpt

Kabuki syndrome (KS) is a congenital developmental disorder caused by germinal pathogenic variants in the lysine methyltransferase 2D (KMT2D, KS1) or lysine demethylase 6A (KDM6A, KS2) genes. Kabuki patients display mental retardation, multiorgan malformations and immune dysregulation – ranging from immunodeficiency to autoimmunity – which strongly compromises their life expectancy. We explored whether the complex...

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Literature Corpus work: f6466511-b86c-53b5-b652-05415d634d45
DOI: 10.64898/2026.04.08.717184

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