Abstract
BackgroundAutoimmune polyendocrine syndrome type 1 (APS1) is a hereditary disease caused by mutations in the AIRE gene with both endocrine and non-endocrine organ involvement. 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 AIRE was conducted in patients with APS1 between the years of 1984 and 2018 at Peking Union Medical College Hospital.ResultsIn total, 13 patients from 12 unrelated families were enrolled, seven of whom were female, with hypoparathyroidism, chronic mucocutaneous candidiasis, and Addison’s 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 ± 1.8 components presented in patients aged 21.2 ± 7.9 years 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 AIRE mutations were found in six patients, four of which (K161fs, G208V, A246fs, and L308F) had not been previously reported in patients with APS1.ConclusionWe 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 AIRE mutations that were observed have expanded the genetic spectrum, which will help with future understanding of the molecular pathogenesis of APS1.
Highlights
Autoimmune polyendocrine syndrome type 1 (APS1) is a hereditary disease caused by mutations in the autoimmune regulator (AIRE) gene with both endocrine and non-endocrine organ involvement
More than 100 AIRE mutations have been linked to APS1, most of which are of autosomal recessive inheritance
Clinical presentation Ascertaining of patients with APS1 presenting the classic triad A total of 13 patients from 12 unrelated families were enrolled in this study
Summary
Autoimmune polyendocrine syndrome type 1 (APS1) is a hereditary disease caused by mutations in the AIRE gene with both endocrine and non-endocrine organ involvement. The existing data from China are lim‐ ited, 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 AIRE was conducted in patients with APS1 between the years of 1984 and 2018 at Peking Union Medical College Hospital. Autoimmune polyendocrine syndrome type 1 (APS1; OMIM #240300) is a rare disease with a prevalence of 1:9000 to 1:25000 in different countries, primarily concentrated within isolated populations [1] The majority of studies on the clinical and genetic profile of APS1 have been reported from European countries, while data from China are scarce and primarily from case reports
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