The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999-2019).
Vassilios LougarisAndrea PessionManuela BaronioAnnarosa SoresinaRoberto RondelliLuisa GazzurelliAlessio BenvenutoSilvana MartinoMarco GattornoAndrea BiondiMarco ZeccaMaddalena MarinoniGiovanna FabioAlessandro AiutiGianluigi MarsegliaMaria Caterina PuttiCarlo AgostiniClaudio LunardiAlberto TommasiniPatrizia BertoliniEleonora GambineriRita ConsoliniAndrea MatucciChiara AzzariMaria Giovanna DanieliRoberto PaganelliMarzia DuseCaterina CancriniViviana MoscheseLuciana ChessaGiuseppe SpadaroAdele CivinoAngelo VaccaFabio CardinaleBaldassare MartireLuigi CarpinoAntonino TrizzinoGiovanna RussoFausto CossuRaffaele BadolatoMaria Cristina PietrograndeIsabella QuintiPaolo RossiAlberto UgazioClaudio PignataAlessandro PlebaniPublished in: Journal of clinical immunology (2020)
Primary immunodeficiencies (PIDs) are heterogeneous disorders, characterized by variable clinical and immunological features. National PID registries offer useful insights on the epidemiology, diagnosis, and natural history of these disorders. In 1999, the Italian network for primary immunodeficiencies (IPINet) was established. We report on data collected from the IPINet registry after 20 years of activity. A total of 3352 pediatric and adult patients affected with PIDs are registered in the database. In Italy, a regional distribution trend of PID diagnosis was observed. Based on the updated IUIS classification of 2019, PID distribution in Italy showed that predominantly antibody deficiencies account for the majority of cases (63%), followed by combined immunodeficiencies with associated or syndromic features (22.5%). The overall age at diagnosis was younger for male patients. The minimal prevalence of PIDs in Italy resulted in 5.1 per 100.000 habitants. Mortality was similar to other European registries (4.2%). Immunoglobulin replacement treatment was prescribed to less than one third of the patient cohort. Collectively, this is the first comprehensive description of the PID epidemiology in Italy.