作者
S Garelli, M Dalla Costa, C Sabbadin, S Barollo, B Rubin, R Scarpa, S Masiero, A Fierabracci, C Bizzarri, A Crinò, M Cappa, M Valenzise, A Meloni, AM De Bellis, C Giordano, F Presotto, R Perniola, D Capalbo, MC Salerno, A Stigliano, G Radetti, V Camozzi, NA Greggio, F Bogazzi, I Chiodini, U Pagotto, SK Black, S Chen, B Rees Smith, J Furmaniak, G Weber, F Pigliaru, L De Sanctis, C Scaroni, C Betterle
发表日期
2021/11
期刊
Journal of endocrinological investigation
卷号
44
期号
11
页码范围
2493-2510
出版商
Springer International Publishing
简介
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 females and 55 males; F/M 1.9/1) at the onset and during a follow-up of 23.7 ± 15.1 years. AIRE mutations were determined.
Results
The prevalence of APS-1 was 2.6 cases/million (range 0.5–17 in different regions). At the onset 93% of patients presented with one or more components of the classical triad and 7% with other components. At the end of follow-up, 86.1% had CH, 77.2% AD, 74.7% CMC, 49.5% premature menopause, 29.7% autoimmune intestinal dysfunction, 27.8 …
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S Garelli, M Dalla Costa, C Sabbadin, S Barollo… - Journal of endocrinological investigation, 2021
