Linda Rossini, Silvia Ricci, Davide Montin, Chiara Azzari, Eleonora Gambineri, Marco Tellini, Francesca Conti, Andrea Pession, Francesco Saettini, Samuele Naviglio, Erica Valencic, Andrea Magnolato, Lucia Baselli, Sara Azzolini, Rita Consolini, Lucia Leonardi, Irene D'Alba, Elisa Carraro, Roberta Romano, Daniela Melis, Stefano Stagi, Emilia Cirillo, Giuliana Giardino, Alessandra Biffi, Claudio Pignata, Maria Caterina Putti, Antonio Marzollo
Kabuki Syndrome (KS) is a multisystemic genetic disorder. A portion of patients has immunological manifestations characterized by increased susceptibility to infections and autoimmunity. Aiming to describe the clinical and laboratory immunological aspects of KS, we conducted a retrospective multicenter observational study on patients with KS treated in centers affiliated to the Italian Primary Immunodeficiency Network.Thirty-nine patients were enrolled, with a median age at evaluation of 10 years (range: 3 m-21y)...
April 27, 2024: Journal of Clinical Immunology