Associated Papers
A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility.
Vemula M et al.
Journal of Human Immunity, 2025
Thymic inborn errors of immunity.
Pala F et al.
The Journal of Allergy and Clinical Immunology, 2025
Analysis of the AIRE Gene Promoter in Patients Affected by Autoimmune Polyendocrine Syndromes.
Cudini A et al.
International Journal of Molecular Sciences, 2024
Novel Insights into the Autoimmunity from the Genetic Approach of the Human Disease.
Peterson P
Advances in Experimental Medicine and Biology, 2024
A non-classical presentation of APECED in a family with heterozygous R203X AIRE gene mutation.
Radetti G et al.
Journal of Endocrinological Investigation, 2023
Correction to: A non-classical presentation of APECED in a family with heterozygous R203X AIRE gene mutation.
Radetti G et al.
Journal of Endocrinological Investigation, 2023
Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.
Cranston T et al.
European Journal of Endocrinology, 2022
Clinical Characteristics in the Longitudinal Follow-Up of APECED Syndrome in Southern Croatia-Case Series.
Skrabic V et al.
Genes, 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
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
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy.
Ferré EMN et al.
Frontiers in Pediatrics, 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 COVID-19 pneumonia case report of autoimmune polyendocrine syndrome type 1 in Lombardy, Italy: letter to the editor.
Beccuti G et al.
Journal of Endocrinological Investigation, 2020
Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Constantine GM et al.
Immunological Reviews, 2019
Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study.
Zaidi G et al.
Endocrine Connections, 2017
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
Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children.
Chan LF et al.
Frontiers in Endocrinology, 2015
A novel mutation in autoimmune regulator gene causes autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Jin P et al.
Journal of Endocrinological Investigation, 2014
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of seven additional sicilian patients and overview of the overall series from sicily.
Valenzise M et al.
Hormone Research in Paediatrics, 2014
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
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 polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) in Sicily: confirmation that R203X is the peculiar AIRE gene mutation.
Giordano C 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
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
Sicilian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and lethal lung disease in one of the affected brothers.
De Luca F et al.
European Journal of Pediatrics, 2008
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
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
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
Mutation analyses of North American APS-1 patients.
Heino M et al.
Human Mutation, 1999
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.
Scott HS et al.
Molecular Endocrinology (baltimore, Md.), 1998
[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