Chloé Bianchi, Henri Margot, Helder Fernandes, Marlène Pasquet, Laurence Priqueler, Frédérique Roy-Peaud, Frédéric Bauduer, Sophie Bayart, Nathalie Garnier, Olivier Fain, Julien Van Gils, Sandrine Baron Joly, Fanny Rialland, Catherine Paillard, Marianna Deparis, Anne Lambilliotte, Thierry Leblanc, Mony Fahd, Guy Leverger, Sébastien Héritier, David Geneviève, Frédéric Rieux-Laucat, Capucine Picard, Caroline Neyraud, Nathalie Aladjidi
Kabuki syndrome (KS) is now listed in the Human Inborn Errors of Immunity (IEI) Classification. It is a rare disease caused by KMT2D and KDM6A variants, dominated by intellectual disability and characteristic facial features. Recurrently, pathogenic variants are identified in those genes in patients examined for autoimmune cytopenia (AIC), but interpretation remains challenging. This study aims to describe the genetic diagnosis and the clinical management of patients with paediatric-onset AIC and KS. Among 11 patients with AIC and KS, all had chronic immune thrombocytopenic purpura, and seven had Evans syndrome...
March 3, 2024: British Journal of Haematology