ArticleiScience2023
Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes.
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Article in iScience, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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32citing papers in PubMed
6.0field-weighted citation impact, top 3% of its field
What it found
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Who cites it
32 citing papers in PubMed, 30 citations in OpenAlex.
- Approach to the patient with APS-1/APECED.The Journal of clinical endocrinology and metabolism · 2026Article
- Systematic and proactive evaluation of AIRE missense variant effects.American journal of human genetics · 2026Article
- Clinical spectrum and long-term follow-up of non-surgical hypoparathyroidism with novel AIRE and GATA3 variants from India.Endocrine · 2026Observational
- Performance of expanded diagnostic criteria for APECED in independent cohorts and implications for earlier diagnosis.JCI insight · 2026Article
- Long-term follow-up of autoimmune polyendocrine syndrome type 1 in Norway.The Journal of clinical endocrinology and metabolism · 2026Article
- Limited penetrance of dominantly inherited AIRE variants in a population-based cohort.Human molecular genetics · 2026Article
- Multimerizing transcription factors FOXP3 and AIRE as chromatin architectural regulators.Nature immunology · 2026Review
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- Clinical Factors Associated with Genetically Confirmed Inborn Errors of Immunity in Children Presenting with Immune Dysregulation.Clinical reviews in allergy & immunology · 2026Review
- Myositis-specific autoantibodies recognising Mi2 also target the AIRE protein at a shared PHD zinc finger.Annals of the rheumatic diseases · 2026Article
- Genetic contribution to severe COVID-19 in adults under 60 years without major comorbidities in the German National Pandemic Cohort Network (NAPKON).Human genomics · 2026Article
- Exploring the strengths and limitations of AI-driven variant prioritization versus manual curation in inborn errors of immunity.Frontiers in genetics · 2026Article
- Systematic and proactive evaluation of AIRE missense variant effects.bioRxiv : the preprint server for biology · 2025Article
- Incomplete penetrance in inborn errors of immunity: A skeleton in the closet-The sequel.Journal of human immunity · 2025Review
- A novel heterozygous pathogenicJournal of human immunity · 2025Article
- Autoimmune hyperglycemia: beyond type 1 diabetes.Acta diabetologica · 2025Article
- Thymic inborn errors of immunity.The Journal of allergy and clinical immunology · 2025Review
- High-resolution transcriptional impact of AIRE: effects of pathogenic variants p.Arg257Ter, p.Cys311Tyr, and polygenic risk variant p.Arg471Cys.Frontiers in immunology · 2025Article
- Aire Mutations and Autoimmune Diseases.Advances in experimental medicine and biology · 2025Review
- Intracranial infections ofFrontiers in immunology · 2025Review
Corrections and comments
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Authors and funding
25 authors at 15 institutions in 7 countries.
Bergithe E OftedalDepartment of Clinical Science, University of Bergen and Department of Medicine, Haukeland University Hospital, Bergen, Norway.
Kristian AssingDepartment of Clinical Immunology, Odense University Hospital, Odense, Denmark.
Safa BarisMarmara University, Faculty of Medicine, Pediatric Allergy and Immunology, Istanbul, Turkey.
Stephanie L SafgrenCenter for Individualized Medicine, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
Isik S JohansenDepartment of Infectious Diseases, Odense University Hospital, Odense, Denmark.
Marianne Antonius JakobsenDepartment of Clinical Immunology, Odense University Hospital, Odense, Denmark.
Dusica Babovic-VuksanovicDepartment of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Katherine AgreInvitae, San Francisco, CA, USA.
Eric W KleeMayo Clinic, Department of Quantitative Health Sciences, Rochester, MN, USA.
Emina MajcicDepartment of Clinical Science, University of Bergen and Department of Medicine, Haukeland University Hospital, Bergen, Norway.
Elise M N FerréLaboratory of Clinical Immunology & Microbiology, National Institute of Allergy & Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
Monica M SchmittLaboratory of Clinical Immunology & Microbiology, National Institute of Allergy & Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
Tom DiMaggioLaboratory of Clinical Immunology & Microbiology, National Institute of Allergy & Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
Lindsey B RosenLaboratory of Clinical Immunology & Microbiology, National Institute of Allergy & Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
Muhammad Obaidur RahmanDepartment of Clinical Science, University of Bergen and Department of Medicine, Haukeland University Hospital, Bergen, Norway.
Dionisios ChrysisDepartment of Pediatrics, Division of Pediatric Endocrinology, Medical School, University of Patras, Rion, Greece.
Aristeidis GiannakopoulosDepartment of Pediatrics, Division of Pediatric Endocrinology, Medical School, University of Patras, Rion, Greece.
Maria Tallon GarciaPediatric Hematology and Oncology Department, Hospital Álvaro Cunqueiro, Vigo, Spain.
Luis Ignacio González-GranadoUnidad de Inmunodeficiencias, Pediatría, Instituto de Investigación Hospital 12 de Octubre, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Katherine StanleyMid-Atlantic Permanente Medical Group, Kaiser Permanente MidAtlantic, Rockville, MD, USA.
Jessica Galant-SwaffordDivision of Allergy & Clinical Immunology, National Jewish Health, Denver, CO, USA.
Pim SuwannaratMid-Atlantic Permanente Medical Group, Kaiser Permanente MidAtlantic, Rockville, MD, USA.
Isabelle MeytsDepartment of Pediatrics, University Hospital Leuven, Laboratory for Inborn Errors of Immunity, Department of Microbiology Immunology and Transplantation, KU Leuven, Leuven, Belgium.
Michail S LionakisLaboratory of Clinical Immunology & Microbiology, National Institute of Allergy & Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
Eystein S HusebyeDepartment of Clinical Science, University of Bergen and Department of Medicine, Haukeland University Hospital, Bergen, Norway.
National Institute of Allergy and Infectious Diseases · USOdense University Hospital · DKUniversity of Bergen · NOKaiser Permanente · USMayo Clinic in Florida · USNational Institutes of Health · USUniversity of Patras · GRHaukeland University Hospital · NOInvitae (United States) · USKU Leuven · BEMarmara University · TRMayo Clinic · USNational Jewish Health · USResearch Institute Hospital 12 de Octubre · ESUniversity Hospital Complex Of Vigo · ES
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disease characterized by severe and childhood onset organ-specific autoimmunity caused by mutations in the autoimmune regulator (
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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.