ArticleJournal of autoimmunity2018
Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator (AIRE).
Article in Journal of autoimmunity, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 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.
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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
23 citing papers in PubMed, 36 citations in OpenAlex.
- Systematic and proactive evaluation of AIRE missense variant effects.American journal of human genetics · 2026Article
- Multimerizing transcription factors FOXP3 and AIRE as chromatin architectural regulators.Nature immunology · 2026Review
- Systematic and proactive evaluation of AIRE missense variant effects.bioRxiv : the preprint server for biology · 2025Article
- A novel heterozygous pathogenicJournal of human immunity · 2025Article
- The Autoimmune Regulator (AIRE) Gene, The Master Activator of Self-Antigen Expression in the Thymus.Advances in experimental medicine and biology · 2025Review
- Aire Mutations and Autoimmune Diseases.Advances in experimental medicine and biology · 2025Review
- Exploring Chronic Hypocalcemia: Insights into Autoimmune Polyglandular Syndrome Type 1-A Case Study and Literature Review.Journal of clinical medicine · 2024Review
- Primary and secondary defects of the thymus.Immunological reviews · 2024Review
- Human autoantibodies neutralizing type I IFNs: From 1981 to 2023.Immunological reviews · 2024Review
- The AIRE G228W mutation disturbs the interaction of AIRE with its partner molecule SIRT1.Frontiers in immunology · 2022Article
- Mechanistic dissection of dominant AIRE mutations in mouse models reveals AIRE autoregulation.The Journal of experimental medicine · 2021Article
- Late-onset autoimmune polyendocrine syndrome type 1: a case report and literature review.Immunologic research · 2021Review
- Inborn errors of thymic stromal cell development and function.Seminars in immunopathology · 2021Review
- Monogenic Adult-Onset Inborn Errors of Immunity.Frontiers in immunology · 2021Review
- Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy.Frontiers in pediatrics · 2021Review
- Autoimmune Addison's Disease as Part of the Autoimmune Polyglandular Syndrome Type 1: Historical Overview and Current Evidence.Frontiers in immunology · 2021Review
- Dual functions of Aire CARD multimerization in the transcriptional regulation of T cell tolerance.Nature communications · 2020Article
- An AIREless Breath: Pneumonitis Caused by Impaired Central Immune Tolerance.Frontiers in immunology · 2020Review
- Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.Immunological reviews · 2019Review
- Foxa1 and Foxa2 in thymic epithelial cells (TEC) regulate medullary TEC and regulatory T-cell maturation.Journal of autoimmunity · 2018Article
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 1 country.
Funding
Abstract
A genetic variant in the SAND domain of autoimmune regulator (AIRE), R247C, was identified in a patient with type I diabetes mellitus (T1DM) and his mother with rheumatoid arthritis. In vitro, the variant dominantly inhibited AIRE; however, typical features of Autoimmune Polyendocrinopathy Candidiasis and Ectodermal Dysplasia (APECED) were not seen in the subjects. Rather, early manifestation of autoimmunity appeared to be dependent on additional genetic factors. On a population level, diverse variants were identified in this region. Surprisingly, many likely pathogenic variants were seen disproportionately in Africans when compared to Europeans, reinforcing the importance of these variants in altering the immune repertoire. In light of these findings, we propose that R247C and other variants within the SAND-domain alter protein function in a dominant fashion and hold potential as drivers of autoimmunity.
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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.