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
Novel homozygous mutations in AIRE leading to APS-1 and potential mechanisms based on bioinformatics analysis.
Wu H et al.
Heliyon, 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
Characterization of the clinical and genetic spectrum of autoimmune polyendocrine syndrome type 1 in Chinese case series.
Wang YB et al.
Orphanet Journal of Rare Diseases, 2021
Late-onset autoimmune polyendocrine syndrome type 1: a case report and literature review.
Zhan F et al.
Immunologic Research, 2021
Alternative splicing: Human disease and quantitative analysis from high-throughput sequencing.
Jiang W et al.
Computational and Structural Biotechnology Journal, 2021
A novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1.
Zheng WB et al.
Molecular Medicine Reports, 2020
A case report and literature review: Identification of a novel AIRE gene mutation associated with Autoimmune Polyendocrine Syndrome Type 1 in East Asians.
Yan Z et al.
Medicine, 2020
A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1.
Zhu W et al.
Immunogenetics, 2017
Childhood Polyarthritis As Early Manifestation of Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy Syndrome.
Gutierrez MJ et al.
Frontiers in Immunology, 2017
AIRE-mutations and autoimmune disease.
Bruserud Ø et al.
Current Opinion in Immunology, 2016
Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series.
Bourgault S et al.
The British Journal of Ophthalmology, 2015
A novel mutation in autoimmune regulator gene causes autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Jin P et al.
Journal of Endocrinological Investigation, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.
Zhang J et al.
Plos One, 2013
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