Article
CARD11 dominant negative mutation leads to altered human Natural Killer cell homeostasis.
Immunobiology - 1 May 2023
Baronio Manuela, Gazzurelli Luisa, Rezzola Sara, Rossi Stefano, Tessarin Giulio, Marinoni Maddalena, Salpietro Annamaria, Fiore Michele, Moratto Daniele, Chiarini Marco, Badolato Raffaele, Parolini Silvia, Tabellini Giovanna, Lougaris Vassilios
Abstract excerpt
Dominant negative mutations in CARD11 have been reported in patients with immune dysregulation, severe atopic features, and variable T cell alterations. Data on Natural killer (NK) cells from affected patients are lacking. We report on a 12-year-old boy with severe atopic dermatitis, food induced anaphylaxis and hypogammaglobulinemia harbouring a novel de novo heterozygous variant c.169G > A; p.Glu57Lys in...
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