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
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
The CRISPR-Cas9 System Is Used to Edit the Autoimmune Regulator Gene in Vitro and in Vivo.
Tanaka PP et al.
Advances in Experimental Medicine and Biology, 2025
Mechanism for controlled assembly of transcriptional condensates by Aire.
Huoh YS et al.
Nature Immunology, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Exploring Chronic Hypocalcemia: Insights into Autoimmune Polyglandular Syndrome Type 1-A Case Study and Literature Review.
Brad GF et al.
Journal of Clinical Medicine, 2024
Novel Insights into the Autoimmunity from the Genetic Approach of the Human Disease.
Peterson P
Advances in Experimental Medicine and Biology, 2024
In Search for the Missing Link in APECED-like Conditions: Analysis of the AIRE Gene in a Series of 48 Patients.
Fierabracci A et al.
Journal of Clinical Medicine, 2022
French-Canadian families from Saguenay-Lac-Saint-Jean: a new founder population for APECED.
Cruz Marino T et al.
Endocrine, 2022
The AIRE G228W mutation disturbs the interaction of AIRE with its partner molecule SIRT1.
Santos JC et al.
Frontiers in Immunology, 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
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
AIRE deficiency, from preclinical models to human APECED disease.
Besnard M et al.
Disease Models & Mechanisms, 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
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
AAV9-mediated AIRE gene delivery clears circulating antibodies and tissue T-cell infiltration in a mouse model of autoimmune polyglandular syndrome type-1.
Almaghrabi S et al.
Clinical & Translational Immunology, 2020
Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Constantine GM et al.
Immunological Reviews, 2019
Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator (AIRE).
Abbott JK et al.
Journal of Autoimmunity, 2018
A Novel Homozygous Mutation of the AIRE Gene in an APECED Patient From Pakistan: Case Report and Review of the Literature.
Pellegrino M et al.
Frontiers in Immunology, 2018
Insights into immune tolerance from AIRE deficiency.
Proekt I et al.
Current Opinion in Immunology, 2017
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
Pathogenic and Protective Autoantibodies in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED).
Kashem SW et al.
Antibodies (basel, Switzerland), 2017
AIRE-mutations and autoimmune disease.
Bruserud Ø et al.
Current Opinion in Immunology, 2016
LYN- and AIRE-mediated tolerance checkpoint defects synergize to trigger organ-specific autoimmunity.
Proekt I et al.
The Journal of Clinical Investigation, 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
Type 1 Diabetes in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED): A "Rare" Manifestation in a "Rare" Disease.
Fierabracci A
International Journal of Molecular Sciences, 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
Sex bias in CNS autoimmune disease mediated by androgen control of autoimmune regulator.
Zhu ML et al.
Nature Communications, 2016
AIRE expands: new roles in immune tolerance and beyond.
Anderson MS et al.
Nature Reviews. Immunology, 2016
Novel Findings into AIRE Genetics and Functioning: Clinical Implications.
De Martino L et al.
Frontiers in Pediatrics, 2016
Central tolerance to self revealed by the autoimmune regulator.
Chan AY et al.
Annals of the New York Academy of Sciences, 2015
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy.
Kisand K et al.
Journal of Clinical Immunology, 2015
Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.
Oftedal BE et al.
Immunity, 2015
The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant.
Bellacchio E et al.
Gene, 2014
The transcriptional regulator Aire coopts the repressive ATF7ip-MBD1 complex for the induction of immunotolerance.
Waterfield M et al.
Nature Immunology, 2014
Human APECED; a Sick Thymus Syndrome?
Arstila TP et al.
Frontiers in Immunology, 2013
Divergent effects of T cell costimulation and inflammatory cytokine production on autoimmune peripheral neuropathy provoked by Aire deficiency.
Zeng XL et al.
Journal of Immunology (baltimore, Md. : 1950), 2013
Aire deficiency promotes TRP-1-specific immune rejection of melanoma.
Zhu ML et al.
Cancer Research, 2013
A novel heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED).
Fierabracci A et al.
Gene, 2012
Genetic basis of altered central tolerance and autoimmune diseases: a lesson from AIRE mutations.
Capalbo D et al.
International Reviews of Immunology, 2012
Defective autoimmune regulator-dependent central tolerance to myelin protein zero is linked to autoimmune peripheral neuropathy.
Su MA et al.
Journal of Immunology (baltimore, Md. : 1950), 2012
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients.
Meloni A et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Autoimmune polyendocrine syndrome type 1: case report and review of literature.
Weiler FG et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2012