IEIs or PIDs are a group of monogenic diseases related to developmental or functional dysfunction of one or several immune cell types. Individually there are rare entities, but collectively they group several thousands of patients. It is estimated that approximately 500.000 patients suffer from PIDs worldwide, making their management a true health-care concern. PIDs are causing susceptibility to severe and life-threatening infections by common pathogens, but they also predispose to cancer and can initially manifest as autoimmune and inflammatory diseases. Indeed, a retrospective analysis indicates that more than 25% of the PIDs patients are presenting with autoimmune/inflammatory manifestations and that the latter manifestations profoundly impair life quality and even lifespan. Multiple mechanisms underlie the development of autoimmunity/inflammation in PIDs, most of which involve disturbances in signaling pathways, cytokine synthesis, antibodies production as well as cytoskeleton remodeling. This symposium will cover the main mechanisms at play in PIDs and will focus on the mechanisms leading to autoimmunity, poor antibody production or cytoskeleton defects. Overall, the topics of these talks will be of interest to a wide audience that includes clinicians as well as basic immunologists.
Organizing Societies French Society for Immunology Sociedade Portuguesa de Imunologia Spanish Society of Immunology
Session Chairs Olivier Boyer, MD, PhD, Rouen University
Session Agenda 8:00 AM - 8:30 AM Main Immune Regulatory Pathways in Humans Through the Prism of Primary Immune Deficiencies with Autoimmunity and Inflammation Frederic Rieux-Laucat INSERM UMR 1163-Institut Imagine-Université Paris Descartes
8:30 AM - 9:00 AM Disentangling de CVID Genetic and Immunological Variability Susana Lopes da Silva Instituto Medicina Molecular
9:00 AM - 9:30 AM A Novel Combined Immunodeficiency with Mutations in Ezrin Oscar de la Calle-Martín Hospital de Sant Pau, Universitat Autònoma de Barcelona