ArticleBMC endocrine disorders2021
Autoimmune polyglandular syndrome type 1 with diabetes insipidus: a case report.
Article in BMC endocrine disorders, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 3 citations in OpenAlex.
- Clinical, genetic, and immunologic features of APS-1 patients from the Middle East, and a review of the literature.Journal of human immunity · 2026Article
- Autoimmune polyglandular syndrome type 1 with compound heterozygousFrontiers in immunology · 2026Review
- Diverse clinical manifestations and management strategies in autoimmune polyglandular syndrome: a review of cases.Annals of medicine and surgery (2012) · 2025Review
- Case Report: Autoimmune polyglandular syndrome type 4 involving diabetes mellitus type 1, autoimmune hepatitis, immune thrombocytopenia, and celiac disease.Frontiers in endocrinology · 2025Article
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Authors and funding
10 authors at 2 institutions in 1 country.
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Abstract
backgroundAutoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic inherited disease caused by mutations of the autoimmune regulator gene (AIRE). The three major components of this syndrome are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical insufficiency. CASE PRESENTATION: We report a 20-year-old male who was clinically diagnosed with APS-1 at the age of 15. He was admitted to our department this time for suffering from polyuria and polydipsia for 6 months and was finally diagnosed with diabetes insipidus. Whole-exome sequencing (WES) revealed a novel compound heterozygous mutation of the AIRE gene -the c.239 T > G (p.Val80Gly) variant on one allele and the copy number variant (CNV) of 21q22.3(chr21:45,670,150-45,706,528)*1 on the other.
conclusionsThis case suggests that diabetes insipidus is a rare component of APS-1 and expands the variety of mutations on AIRE gene.
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