دورية أكاديمية
Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
| العنوان: | Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients |
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| المؤلفون: | Garelli S., Dalla Costa M., Sabbadin C., Barollo S., Rubin B., Scarpa R., Masiero S., Fierabracci A., Bizzarri C., Crino 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. |
| المساهمون: | Garelli S., Dalla Costa M., Sabbadin C., Barollo S., Rubin B., Scarpa R., Masiero S., Fierabracci A., Bizzarri C., Crino 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. |
| سنة النشر: | 2021 |
| المجموعة: | IRIS Università degli Studi di Bologna (CRIS - Current Research Information System) |
| مصطلحات موضوعية: | Addison’s disease, AIRE gene mutation, Autoimmune Polyglandular Syndrome type 1 (APS-1), Autoimmune-poly-endocrine-candidiasis-ectodermal-dystrophy (APECED), Chronic hypoparathyroidism, Chronic mucocutaneous candidiasi, Interferon autoantibodie, Adult, Autoantibodie, Female, Human, Interferon Type I, Italy, Male, Mortality, Mutation, Prevalence, Transcription Factor, Addison Disease, Candidiasis, Chronic Mucocutaneou, Hypoparathyroidism, Polyendocrinopathies, Autoimmune |
| الوصف: | 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% autoimmune thyroid diseases, 25.9% autoimmune gastritis/pernicious anemia, 25.3% ectodermal dystrophy, 24% alopecia, 21.5% autoimmune hepatitis, 17% vitiligo, 13.3% cholelithiasis, 5.7% connective diseases, 4.4% asplenia, 2.5% celiac disease and 13.9% cancer. Overall, 991 diseases (6.3 diseases/patient) were found. Interferon-ω Abs (IFNωAbs) were positive in 91.1% of patients. Overall mortality was 14.6%. The AIRE mutation R139X was found in 21.3% of tested alleles, R257X in 11.8%, W78R in 11.4%, C322fsX372 in 8.8%, T16M in 6.2%, R203X in 4%, and A21V in 2.9%. Less frequent mutations were present in 12.9%, very rare in 9.6% while no mutations in 11% of the cases. Conclusions: In Italy, APS-1 is a rare disorder presenting with the three major manifestations and associated with different AIRE gene mutations. IFNωAbs are markers of APS-1 and other organ-specific autoantibodies are markers of clinical, subclinical or potential autoimmune conditions. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | ELETTRONICO |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/34003463; info:eu-repo/semantics/altIdentifier/wos/WOS:000651689200002; volume:44; issue:11; firstpage:2493; lastpage:2510; numberofpages:18; journal:JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION; https://hdl.handle.net/11585/860446Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85106226694; https://link.springer.com/article/10.1007/s40618-021-01585-6Test |
| DOI: | 10.1007/s40618-021-01585-6 |
| الإتاحة: | https://doi.org/10.1007/s40618-021-01585-6Test https://hdl.handle.net/11585/860446Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.5412138C |
| قاعدة البيانات: | BASE |
| DOI: | 10.1007/s40618-021-01585-6 |
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