Autoimmune Polyendocrine Syndrome Type 1: An Italian Survey on 158 Patients

    May 2021 in “ Journal of endocrinological investigation ”
    Silvia Garelli, Miriam Dalla Costa, Chiara Sabbadin, Susi Barollo, Beatrice Rubin, Riccardo Scarpa, S. Masiero, Alessandra Fierabracci, Carla Bizzarri, Antonino Crinò, Marco Cappa, Mariella Valenzise, Antonella Meloni, Alexander Bellis, Carla Giordano, Fabio Presotto, Roberto Perniola, Donatella Capalbo, Mariacarolina Salerno, Antonio Stigliano, Giorgio Radetti, Valentina Camozzi, Nella Augusta Greggio, Fausto Bogazzi, Iacopo Chiodini, Uberto Pagotto, Sarah Black, S. Chen, Bernard Rees Smith, Jadwiga Furmaniak, Giovanna Weber, Francesco Pigliaru, Luisa De Sanctis, Carla Scaroni, Corrado Betterle
    Image of study
    TLDR APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
    Autoimmune Polyglandular Syndrome type 1 (APS-1) is a rare inherited disease caused by AIRE gene mutations, characterized by chronic mucocutaneous candidiasis, chronic hypoparathyroidism, and Addison’s disease. In a survey of 158 Italian patients (103 females, 55 males) over an average follow-up of 23.7 years, 93% initially presented with one or more components of the classical triad. By the end of the follow-up, the prevalence of various autoimmune conditions was documented, including 24% with alopecia. The study found a high prevalence of IFNωAbs (91.1%) and identified several AIRE mutations, with R139X being the most common (21.3%). The overall mortality rate was 14.6%. APS-1 in Italy is marked by diverse AIRE mutations and a range of autoimmune manifestations.
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