Associated Papers
A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility.
Vemula M et al.
Journal of Human Immunity, 2025
Landscape of pathogenic mutations in premature ovarian insufficiency.
Ke H et al.
Nature Medicine, 2023
Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.
Cranston T et al.
European Journal of Endocrinology, 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
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
Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Constantine GM et al.
Immunological Reviews, 2019
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
Novel insight into Chronic Inflammatory Demyelinating Polineuropathy in APECED syndrome: molecular mechanisms and clinical implications in children.
Valenzise M et al.
Italian Journal of Pediatrics, 2017
AIRE-mutations and autoimmune disease.
Bruserud Ø et al.
Current Opinion in Immunology, 2016
AIRE genetic variants and predisposition to polygenic autoimmune disease: The case of Graves' disease and a systematic literature review.
Colobran R et al.
Human 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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
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
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
Autoimmune regulator AIRE: evidence for genetic differences between autoimmune hepatitis and hepatitis as part of the autoimmune polyglandular syndrome type 1.
Vogel A et al.
Hepatology (baltimore, Md.), 2001