ArticleJournal of endocrinological investigation2021
Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.
Article in Journal of endocrinological investigation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 1 of them a synthesis that pooled it.
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Who cites it
45 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
- Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.Journal of clinical immunology · 2024Pooled it
- Approach to the patient with APS-1/APECED.The Journal of clinical endocrinology and metabolism · 2026Article
- Clinical, genetic, and immunologic features of APS-1 patients from the Middle East, and a review of the literature.Journal of human immunity · 2026Article
- Systematic and proactive evaluation of AIRE missense variant effects.American journal of human genetics · 2026Article
- Article
- Addison's disease in Italy: mortality and survival by etiology.Journal of endocrinological investigation · 2026Article
- Performance of expanded diagnostic criteria for APECED in independent cohorts and implications for earlier diagnosis.JCI insight · 2026Article
- The Cross-Knit Between Immune Cells and Thyroid Function in Autoimmune Thyroid Disorders: What We Can Learn from Inborn Errors of Immunity.Children (Basel, Switzerland) · 2026Review
- Type 1 Diabetes and Other Autoimmune Diseases-Epidemiology, Pathophysiology and Screening.Endocrinology, diabetes & metabolism · 2026Review
- The "polyglandular crisis" behind recurrent hyponatremia: misdiagnosis of a case of autoimmune polyglandular syndrome type 2 and clinical lessons learned.Frontiers in immunology · 2026Article
- Autoimmune polyglandular syndrome type 1 with compound heterozygousFrontiers in immunology · 2026Review
- Insularity, character traits and local political interference: the pivotal players of the Sardinia regional health service's progressive decline.Frontiers in public health · 2026Article
- Adrenal crisis: incidence, clinical presentation and risk factors in patients with Addison's disease.Endocrine · 2025Article
- Autoimmune hyperglycemia: beyond type 1 diabetes.Acta diabetologica · 2025Article
- Head and Neck Malignancies in Autoimmune Polyendocrine Syndrome Type 1 (APS-1/APECED): A Scoping Review of Molecular Pathogenesis, Clinical Features, and Outcomes.International journal of molecular sciences · 2025Article
- Autoimmune Gastritis andInternational journal of molecular sciences · 2025Review
- Lessons From Prospective Longitudinal Follow-up of a French APECED Cohort.The Journal of clinical endocrinology and metabolism · 2025Observational
- Autoimmune polyglandular syndrome among Chinese celiac disease patients: a survey of 243 individuals in China.Frontiers in immunology · 2025Article
- Case Report: Clinical and molecular features of a radiosensitive autoimmune polyendocrine syndrome type 1 patient with oral carcinoma.Frontiers in genetics · 2025Article
- Genetic Characteristics of a Large Pediatric Cohort of Patients with Inborn Errors of Immunity: Single-Center Experience.Journal of clinical immunology · 2024Article
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Authors and funding
35 authors at 19 institutions in 2 countries.
Funding
Abstract
backgroundAutoimmune 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).
methodsAutoimmune 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.
resultsThe 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.
conclusionsIn 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.
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