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The existing data from China are limited, and this study aims to describe the phenotypes and genetic characterization in Chinese APS1 patients. In this single-center, retrospective, observational study, comprehensive endocrine and extra-endocrine manifestations were collected, and genetic analysis in <jats:italic>AIRE<\/jats:italic> was conducted in patients with APS1 between the years of 1984 and 2018 at Peking Union Medical College Hospital.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>In total, 13 patients from 12 unrelated families were enrolled, seven of whom were female, with hypoparathyroidism, chronic mucocutaneous candidiasis, and Addison\u2019s disease being the most frequently observed manifestations. Up to 84.7% presented with two or three of the above-mentioned manifestations, and nearly 4.9\u2009\u00b1\u20091.8 components  presented in patients aged 21.2\u2009\u00b1\u20097.9\u00a0years old. Several less common phenotypes, such as myeloproliferative disease, pure red cell aplasia, renal tubular acidosis, asplenia, autoimmune hepatitis, and ankylosing spondylitis, were also observed in patients. Altogether, seven different <jats:italic>AIRE<\/jats:italic> mutations were found in six patients, four of which (K161fs, G208V, A246fs, and L308F) had not been previously reported in patients with APS1.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>We have provided a comprehensive profile of Chinese patients with APS1, with less commonly observed features being observed in addition to more regularly seen manifestations. Additionally, different <jats:italic>AIRE<\/jats:italic> mutations that were observed have expanded the genetic spectrum, which will help with future understanding of the molecular pathogenesis of APS1.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-021-01933-y","type":"journal-article","created":{"date-parts":[[2021,7,3]],"date-time":"2021-07-03T09:02:49Z","timestamp":1625302969000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Characterization of the clinical and genetic spectrum of autoimmune polyendocrine syndrome type 1 in Chinese case series"],"prefix":"10.1186","volume":"16","author":[{"given":"Ya-Bing","family":"Wang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0395-8789","authenticated-orcid":false,"given":"Ou","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Nie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei-Bo","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Ping","family":"Xing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,7,3]]},"reference":[{"issue":"12","key":"1933_CR1","doi-asserted-by":"publisher","first-page":"1132","DOI":"10.1056\/NEJMra1713301","volume":"378","author":"ES Husebye","year":"2018","unstructured":"Husebye ES, Anderson MS, Kampe O. 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