Associated Papers
Systematic and proactive evaluation of AIRE missense variant effects.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
Expanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent Mutations.
Sahin I et al.
Cureus, 2024
Revisiting double-negative T cells in autoimmune lymphoproliferative immunodeficiencies: a case series.
Jamee M et al.
Allergologia Et Immunopathologia, 2024
Pregnancy Outcome in Women With APECED (APS-1): A Multicenter Study on 43 Females With 83 Pregnancies.
Laakso S et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
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
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
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
AIRE-mutations and autoimmune disease.
Bruserud Ø et al.
Current Opinion in 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
Central tolerance to self revealed by the autoimmune regulator.
Chan AY et al.
Annals of the New York Academy of Sciences, 2015
APECED: A Paradigm of Complex Interactions between Genetic Background and Susceptibility Factors.
De Martino L et al.
Frontiers in Immunology, 2013
Alterations of the autoimmune regulator transcription factor and failure of central tolerance: APECED as a model.
Gallo V et al.
Expert Review of Clinical Immunology, 2013
Autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy in Calabria: clinical, immunological and genetic patterns.
Betterle C et al.
Journal of Endocrinological Investigation, 2012
Genetic basis of altered central tolerance and autoimmune diseases: a lesson from AIRE mutations.
Capalbo D et al.
International Reviews of Immunology, 2012
Identification of two novel mutations in the first Sicilian APECED patient with no R203X mutation in AIRE gene and review of Italian APECED genotypes.
Valenzise M et al.
Gene, 2012
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
AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED.
Cervato S et al.
Clinical Endocrinology, 2010
Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy.
Tóth B et al.
Clinical Endocrinology, 2010
Autoimmune polyglandular syndrome type 1 in Russian patients: clinical variants and autoimmune regulator mutations.
Orlova EM et al.
Hormone Research in Paediatrics, 2010
Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relatives.
Cervato S et al.
Clinical Endocrinology, 2009
Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I.
Meloni A et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
High prevalence of thyroid autoimmunity in Apulian patients with autoimmune polyglandular syndrome type 1.
Perniola R et al.
Thyroid : Official Journal of the American Thyroid Association, 2008
Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED.
Moraes-Vasconcelos D et al.
Journal of Clinical Immunology, 2008
Two novel mutations of the AIRE protein affecting its homodimerization properties.
Meloni A et al.
Human Mutation, 2005
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
Autoimmune regulator: from loss of function to autoimmunity.
Pitkänen J et al.
Genes and Immunity, 2003
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
Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.
Meloni A et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
APECED mutations in the autoimmune regulator (AIRE) gene.
Heino M et al.
Human Mutation, 2001
Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED.
Cihakova D et al.
Human Mutation, 2001
[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
Immunological findings in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and their family members: are heterozygotes subclinically affected?
Sedivá A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 0