Associated Papers
Systematic and proactive evaluation of AIRE missense variant effects.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
Role of IL-27 in Epstein-Barr virus infection revealed by IL-27RA deficiency.
Martin E et al.
Nature, 2024
Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants.
Setoodeh A et al.
Orphanet Journal of Rare Diseases, 2022
Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.
Garelli S 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
Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.
Capalbo D et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Altered B cell homeostasis and Toll-like receptor 9-driven response in patients affected by autoimmune polyglandular syndrome Type 1: Altered B cell phenotype and dysregulation of the B cell function in APECED patients.
Perri V et al.
Immunobiology, 2017
Ocular manifestations of autoimmune polyendocrinopathy syndrome type 1.
Couturier A et al.
Current Opinion in Ophthalmology, 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
Extended HSR/CARD domain mediates AIRE binding to DNA.
Maslovskaja J et al.
Biochemical and Biophysical Research Communications, 2015
Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1.
Couturier A et al.
Cornea, 2015
Molecular background and genotype-phenotype correlation in autoimmune-polyendocrinopathy-candidiasis-ectodermal-distrophy patients from Campania and in their relatives.
Capalbo D et al.
Journal of Endocrinological Investigation, 2012
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation.
Capalbo D et al.
International Journal of Endocrinology, 2012
Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.
Mazza C et al.
Clinical Immunology (orlando, Fla.), 2011
Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy.
Tóth B et al.
Clinical Endocrinology, 2010
Prediction of disease-related mutations affecting protein localization.
Laurila K et al.
Bmc Genomics, 2009
Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1.
Podkrajsek KT et al.
European Journal of Endocrinology, 2008
Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED.
Moraes-Vasconcelos D et al.
Journal of Clinical Immunology, 2008
Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: new views on molecular basis of autoimmunity.
Peterson P et al.
Journal of Autoimmunity, 2005
APECED-causing mutations in AIRE reveal the functional domains of the protein.
Halonen M et al.
Human Mutation, 2004
AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype.
Halonen M et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
[A rare case of juvenile diabetes mellitus associated with APECED (autoimmune poly-endocrinopathy, candidiasis and ectodermal dystrophy) with strong X-linked familial inheritance].
Iannello S et al.
Minerva Endocrinologica, 1997