The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of
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ORIGINAL ARTICLE
The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019) Vassilios Lougaris 1 & Andrea Pession 2 & Manuela Baronio 1 & Annarosa Soresina 3 & Roberto Rondelli 2 & Luisa Gazzurelli 1 & Alessio Benvenuto 1 & Silvana Martino 4 & Marco Gattorno 5 & Andrea Biondi 6 & Marco Zecca 7 & Maddalena Marinoni 8 & Giovanna Fabio 9 & Alessandro Aiuti 10,11,12 & Gianluigi Marseglia 13 & Maria Caterina Putti 14 & Carlo Agostini 15 & Claudio Lunardi 16 & Alberto Tommasini 17,18 & Patrizia Bertolini 19 & Eleonora Gambineri 20 & Rita Consolini 21 & Andrea Matucci 22 & Chiara Azzari 23 & Maria Giovanna Danieli 24 & Roberto Paganelli 25 & Marzia Duse 26,27 & Caterina Cancrini 28 & Viviana Moschese 29 & Luciana Chessa 30 & Giuseppe Spadaro 31 & Adele Civino 32 & Angelo Vacca 33 & Fabio Cardinale 34 & Baldassare Martire 35 & Luigi Carpino 36 & Antonino Trizzino 37 & Giovanna Russo 38 & Fausto Cossu 39 & Raffaele Badolato 1 & Maria Cristina Pietrogrande 40 & Isabella Quinti 41 & Paolo Rossi 28 & Alberto Ugazio 42 & Claudio Pignata 43 & Alessandro Plebani 1 Received: 2 April 2020 / Accepted: 6 August 2020 # The Author(s) 2020
Abstract 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. Keywords Primary immunodeficiencies . patient registry
Introduction Primary immunodeficiencies comprise a heterogeneous group of rare disorders, characterized by a variety of possible immunological alterations that influence the age at onset of disease for affected individuals [1, 2]. Considering the low number of affected patients, awareness among clinicians and healthcare Vassilios Lougaris, Andrea Pession, Claudio Pignata and Alessandro Plebani contributed equally to this work. * Vassilios Lougaris [email protected] Extended author information available on the last page of the article
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