Article
Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.
Journal of endocrinological investigation - 1 Nov 2021
Garelli S, Dalla Costa M, Sabbadin C, Barollo S, Rubin B, Scarpa R, Masiero S, Fierabracci A, Bizzarri C, Crinò A, Cappa M, Valenzise M, Meloni A, De Bellis A M, Giordano C, Presotto F, Perniola R, Capalbo D, Salerno M C, Stigliano A, Radetti G, Camozzi V, Greggio N A, Bogazzi F, Chiodini I, Pagotto U, Black S K, Chen S, Rees Smith B, Furmaniak J, Weber G, Pigliaru F, De Sanctis L, Scaroni C, Betterle C
Abstract excerpt
BACKGROUND: Autoimmune Polyglandular Syndrome type 1 (APS-1) is a rare recessive inherited disease, caused by AutoImmune Regulator (AIRE) gene mutations and characterized by three major manifestations: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (CH) and Addison's disease (AD). METHODS: Autoimmune conditions and associated autoantibodies (Abs) were analyzed in 158 Italian patients (103...
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