Associated Papers
Long-term follow-up of autoimmune polyendocrine syndrome type-1 in Norway.
Kucuka I et al.
The Journal of Clinical Endocrinology and Metabolism, 2026
A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility.
Vemula M et al.
Journal of Human Immunity, 2025
Genetic screening in a large Chinese cohort of adult-onset non-surgical hypoparathyroidism.
Yang J et al.
Endocrine, 2025
Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing.
Illés A et al.
Bmc Medical Genomics, 2024
Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes.
Oftedal BE et al.
Iscience, 2023
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.
Kernan KF et al.
Journal of Clinical Immunology, 2022
Mechanistic dissection of dominant AIRE mutations in mouse models reveals AIRE autoregulation.
Goldfarb Y et al.
The Journal of Experimental Medicine, 2021
Late-onset autoimmune polyendocrine syndrome type 1: a case report and literature review.
Zhan F et al.
Immunologic Research, 2021
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy.
Ferré EMN et al.
Frontiers in Pediatrics, 2021
Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study.
Schiavo E 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
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
Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease.
Aslaksen S et al.
Journal of Translational Autoimmunity, 2019
Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Constantine GM et al.
Immunological Reviews, 2019
Double Trouble? CMC with a Mutation in both AIRE and STAT1.
Al Dhanhani H et al.
Journal of Clinical Immunology, 2018
AIRE-mutations and autoimmune disease.
Bruserud Ø et al.
Current Opinion in Immunology, 2016
Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.
Oftedal BE et al.
Immunity, 2015
Analysis of the autoimmune regulator gene in patients with autoimmune non-APECED polyendocrinopathies.
Palma A et al.
Genomics, 2013
AIRE-PHD fingers are structural hubs to maintain the integrity of chromatin-associated interactome.
Gaetani M et al.
Nucleic Acids Research, 2012
[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
NSD1 PHD domains bind methylated H3K4 and H3K9 using interactions disrupted by point mutations in human sotos syndrome.
Pasillas MP et al.
Human Mutation, 2011
Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy.
Tóth B et al.
Clinical Endocrinology, 2010
Autoimmune polyglandular syndrome type 1 in Russian patients: clinical variants and autoimmune regulator mutations.
Orlova EM et al.
Hormone Research in Paediatrics, 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
PHD fingers in human diseases: disorders arising from misinterpreting epigenetic marks.
Baker LA et al.
Mutation Research, 2008
The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression.
Org T et al.
Embo Reports, 2008
AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I.
Bøe Wolff AS et al.
Genes and Immunity, 2008
AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis.
Ferrera F et al.
Clinical Immunology (orlando, Fla.), 2007
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
The genetic background of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy and its autoimmune disease components.
Vogel A et al.
Journal of Molecular Medicine (berlin, Germany), 2002
Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.
Meloni A et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
APECED mutations in the autoimmune regulator (AIRE) gene.
Heino M et al.
Human Mutation, 2001