Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency.
Piranit Nik KantaputraTeerada KlaisuwanMati ChuamanochanSuteeraporn ChaowattanapanitWorrachet IntachaiBjorn OlsenThanapat SastrarujiSissades TongsimaChumpol NgamphiwJatupol KampuansaiTimothy C CoxSalin KiratikanonPublished in: Genes (2022)
This study implicates disruptive TGFBR2-mediated signaling, via a shared truncating variant, c.458del; p.Lys153SerfsTer35, as a "predisposing risk factor" for GPP and AOID.
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