ReviewFrontiers in pediatrics2016
Novel Findings into AIRE Genetics and Functioning: Clinical Implications.
Review in Frontiers in pediatrics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
13 citing papers in PubMed, 27 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
- 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
- Case Report: Life-threatening overlap of hemophagocytic syndrome and atypical hemolytic uremic syndrome in a patient with autoimmune polyglandular syndrome type 1 successfully treated with targeted immunotherapy.Frontiers in immunology · 2025Article
- Pathogenesis of Autoimmune Cytopenias in Inborn Errors of Immunity Revealing Novel Therapeutic Targets.Frontiers in immunology · 2022Review
- Genetic Polymorphisms and the Clinical Response to Systemic Lupus Erythematosus Treatment Towards Personalized Medicine.Frontiers in pharmacology · 2022Review
- Aire and Fezf2, two regulators in medullary thymic epithelial cells, control autoimmune diseases by regulating TSAs: Partner or complementer?Frontiers in immunology · 2022Review
- French-Canadian families from Saguenay-Lac-Saint-Jean: a new founder population for APECED.Endocrine · 2022Article
- Late-Onset Isolated Corticotrope Deficiency in a Woman with Down Syndrome.Case reports in endocrinology · 2021Article
- Article
- A Review of Autoimmune Enteropathy and Its Associated Syndromes.Digestive diseases and sciences · 2020Review
- Genetic Disorders of Parathyroid Development and Function.Endocrinology and metabolism clinics of North America · 2018Review
- Update on Aire and thymic negative selection.Immunology · 2018Review
- Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism.The Journal of clinical endocrinology and metabolism · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), formerly known as autoimmune polyendocrine syndrome type 1, is a paradigm of a monogenic autoimmune disease caused by mutations of a gene, named autoimmune regulator (AIRE). AIRE acts as a transcription regulator that promotes immunological central tolerance by inducing the ectopic thymic expression of many tissue-specific antigens. Although the syndrome is a monogenic disease, it is characterized by a wide variability of the clinical expression with no significant correlation between genotype and phenotype. Indeed, many aspects regarding the exact role of AIRE and APECED pathogenesis still remain unraveled. In the last decades, several studies in APECED and in its mouse experimental counterpart have revealed new insights on how immune system learns self-tolerance. Moreover, novel interesting findings have extended our understanding of AIRE's function and regulation thus improving our knowledge on the pathogenesis of APECED. In this review, we will summarize recent novelties on molecular mechanisms underlying the development of APECED and their clinical implications.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.