Associated Papers
Distinct mutations in the autoimmune regulator gene differentially affect transcriptional and functional properties of medullary thymic epithelial cells.
Tanaka PP et al.
Human Molecular Genetics, 2026
Long-term follow-up of autoimmune polyendocrine syndrome type-1 in Norway.
Kucuka I et al.
The Journal of Clinical Endocrinology and Metabolism, 2026
Systematic and proactive evaluation of AIRE missense variant effects.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility.
Vemula M et al.
Journal of Human Immunity, 2025
High-resolution transcriptional impact of AIRE: effects of pathogenic variants p.Arg257Ter, p.Cys311Tyr, and polygenic risk variant p.Arg471Cys.
Berger AH et al.
Frontiers in Immunology, 2025
Mechanism for controlled assembly of transcriptional condensates by Aire.
Huoh YS et al.
Nature Immunology, 2024
A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1.
Oftedal BE et al.
The Journal of Clinical Investigation, 2023
Pregnancy Outcome in Women With APECED (APS-1): A Multicenter Study on 43 Females With 83 Pregnancies.
Laakso S et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Recurrent Hypokalemia and Adrenal Steroids in Patients With APECED.
Borchers J et al.
Frontiers in Endocrinology, 2022
Mechanistic dissection of dominant AIRE mutations in mouse models reveals AIRE autoregulation.
Goldfarb Y et al.
The Journal of Experimental Medicine, 2021
Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.
Garelli S et al.
Journal of Endocrinological Investigation, 2021
Patients with autoimmune polyendocrine syndrome type 1 have an increased susceptibility to severe herpesvirus infections.
Hetemäki I et al.
Clinical Immunology (orlando, Fla.), 2021
Report of two siblings with APECED in Serbia: is there a founder effect of c.769C>T AIRE genotype?
Fierabracci A et al.
Italian Journal of Pediatrics, 2021
Autoimmune polyendocrine syndrome type 1 (APECED) in the Indian population: case report and review of a series of 45 patients.
Fierabracci A et al.
Journal of Endocrinological Investigation, 2021
Late-onset autoimmune polyendocrine syndrome type 1: a case report and literature review.
Zhan F et al.
Immunologic Research, 2021
Transcriptional Changes in Regulatory T Cells From Patients With Autoimmune Polyendocrine Syndrome Type 1 Suggest Functional Impairment of Lipid Metabolism and Gut Homing.
Berger AH et al.
Frontiers in Immunology, 2021
Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature.
Cinque L et al.
Biomedicines, 2020
A novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1.
Zheng WB et al.
Molecular Medicine Reports, 2020
Dual functions of Aire CARD multimerization in the transcriptional regulation of T cell tolerance.
Huoh YS et al.
Nature Communications, 2020
Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression with Alopecia Areata in Males: A Case-control Study.
Toraih EA et al.
Immunological Investigations, 2020
Severe Phenotype of APECED (APS1) Increases Risk for Structural Bone Alterations.
Laakso S et al.
Frontiers in Endocrinology, 2020
Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Constantine GM et al.
Immunological Reviews, 2019
AIRE-mutations and autoimmune disease.
Bruserud Ø et al.
Current Opinion in Immunology, 2016
Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum.
Tucker EJ et al.
Endocrine Reviews, 2016
Functional Domains of Autoimmune Regulator (AIRE) Modulate INS-VNTR Transcription in Human Thymic Epithelial Cells.
Sparks AE et al.
The Journal of Biological Chemistry, 2016
Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.
Oftedal BE et al.
Immunity, 2015
A novel mutation in autoimmune regulator gene causes autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Jin P et al.
Journal of Endocrinological Investigation, 2014
Prevalence and clinical associations of calcium-sensing receptor and NALP5 autoantibodies in Finnish APECED patients.
Kemp EH et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
[Autoimmune polyglandular syndrome type IIID in a girl].
Chen TT et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2012
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation.
Capalbo D et al.
International Journal of Endocrinology, 2012
Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy.
Tóth B et al.
Clinical Endocrinology, 2010
Structure and site-specific recognition of histone H3 by the PHD finger of human autoimmune regulator.
Chakravarty S et al.
Structure (london, England : 1993), 2009
The solution structure of the first PHD finger of autoimmune regulator in complex with non-modified histone H3 tail reveals the antagonistic role of H3R2 methylation.
Chignola F et al.
Nucleic Acids Research, 2009
PHD fingers in human diseases: disorders arising from misinterpreting epigenetic marks.
Baker LA et al.
Mutation Research, 2008
Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I.
Meloni A et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED.
Moraes-Vasconcelos D et al.
Journal of Clinical Immunology, 2008
The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression.
Org T et al.
Embo Reports, 2008
Role of PHD fingers and COOH-terminal 30 amino acids in AIRE transactivation activity.
Meloni A et al.
Molecular Immunology, 2008
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Perheentupa J
The Journal of Clinical Endocrinology and Metabolism, 2006
NMR structure of the first PHD finger of autoimmune regulator protein (AIRE1). Insights into autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) disease.
Bottomley MJ et al.
The Journal of Biological Chemistry, 2005
AIRE functions as an E3 ubiquitin ligase.
Uchida D et al.
The Journal of Experimental Medicine, 2004
Autoimmune regulator: from loss of function to autoimmunity.
Pitkänen J et al.
Genes and Immunity, 2003
Systematic mutagenesis of the functional domains of AIRE reveals their role in intracellular targeting.
Ramsey C et al.
Human Molecular Genetics, 2002
Autoimmune regulator (AIRE) gene on chromosome 21: implications for autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) any more common manifestations of endocrine autoimmunity.
Meyer G et al.
Journal of Endocrinological Investigation, 2002
AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype.
Halonen M et al.
The Journal of Clinical Endocrinology and Metabolism, 2002