{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T08:34:59Z","timestamp":1775032499214,"version":"3.50.1"},"reference-count":23,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic autoimmune disorder caused by pathogenic variants in the AIRE gene, characterized by impaired central immune tolerance and multi-organ autoimmune damage. While relatively common in genetically isolated populations, genetically confirmed APS-1 cases remain exceptionally rare in Chinese individuals. To date, population-specific genotypic and phenotypic features of APS-1 in China have not been systematically summarized.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>We report a 31-year-old female patient who presented with hypocalcemic convulsions as the initial symptom, accompanied by a 20-year history of vitiligo and mild anemia, newly developed chronic diarrhea and positive islet autoimmunity. Laboratory examinations confirmed hypoparathyroidism and stage 1 type 1 diabetes mellitus (T1DM) with significantly elevated islet autoantibodies but normal islet function. Genetic analysis identified novel compound heterozygous pathogenic variants in the AIRE gene: a missense variant c.977C&amp;gt;T (p.Pro326Leu) inherited from her mother and a 1.6 kb deletion spanning exons 2\u20134 with an untraceable origin due to the lack of paternal specimen, both classified as pathogenic according to ACMG guidelines.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      We performed a systematic narrative review integrating 24 previously reported genetically confirmed Chinese APS-1 cases, forming a combined cohort of 25 cases for comprehensive analysis. This study identified the deletion of\n                      <jats:italic>AIRE<\/jats:italic>\n                      gene exons 2\u20134 as a recurrent pathogenic variant observed in Chinese APS-1 patients, and revealed distinct phenotypic patterns of Chinese patients including a male-to-female ratio of 2:1, a low incidence of the classic triad (44%) and a 16% prevalence of pancreatic autoimmunity. As the first genetically confirmed Chinese case of APS-1 complicated with stage 1 T1DM, this report fills the gap in early pancreatic autoimmunity phenotypic data for Chinese APS-1 patients and enriches the disease\u2019s clinical and genetic spectrum. Clinicians should suspect APS-1 and prioritize early\n                      <jats:italic>AIRE<\/jats:italic>\n                      gene testing in young patients with non-surgical hypoparathyroidism and concurrent autoimmune manifestations to prevent misdiagnosis or delayed diagnosis.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fimmu.2026.1781304","type":"journal-article","created":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T05:41:38Z","timestamp":1775022098000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Autoimmune polyglandular syndrome type 1 with compound heterozygous AIRE gene pathogenic variants and stage 1 type 1 diabetes mellitus: case report and literature review of Chinese population"],"prefix":"10.3389","volume":"17","author":[{"given":"Siruo","family":"Liu","sequence":"first","affiliation":[{"name":"First Department of Infectious Diseases, The First Hospital of China Medical University","place":["Shenyang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Conghui","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, Institute of Endocrinology, The First Hospital of China Medical University","place":["Shenyang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoli","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, Institute of Endocrinology, The First Hospital of China Medical University","place":["Shenyang, 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