Associated Papers
Systematic and proactive evaluation of AIRE missense variant effects.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
41332640 (PubMed )
Supplement: media-2.xlsx › APS-1_patient_cohort
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
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
31601134 (PubMed )
Supplement: supplement_1.pdf
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
The role of heterozygous mutations of the autoimmune regulator gene (AIRE) in non-APECED autoimmunity: a comment on recent findings.
Fierabracci A
Clinical Endocrinology, 2011
AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED.
Cervato S et al.
Clinical Endocrinology, 2010
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