Article
Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD).
Clinical immunology (Orlando, Fla.) - 1 Oct 2021
Papa Riccardo, Rusmini Marta, Schena Francesca, Traggiai Elisabetta, Coccia Maria Cristina, Caorsi Roberta, Arrigo Serena, Pasetti Francesco, Signa Sara, Barone Patrizia, Santamaria Giuseppe, Spirito Giovanni, Sanges Remo, Vozzi Diego, Cavalli Andrea, Gustincich Stefano, Ravelli Angelo, Gattorno Marco, Ceccherini Isabella, Volpi Stefano
Abstract excerpt
RAS-associated autoimmune leukoproliferative disease (RALD) is a rare immune dysregulation syndrome caused by somatic gain-of-function mutations of either NRAS or KRAS gene in hematopoietic cells. We describe a 27-year-old patient presenting at 5 months of age with recurrent infections and generalized lymphadenopathy who developed a complex multi-organ autoimmune syndrome with hypogammaglobulinemia, partially...
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