Associated Papers
Long-term follow-up of autoimmune polyendocrine syndrome type-1 in Norway.
Kucuka I et al.
The Journal of Clinical Endocrinology and Metabolism, 2026
Systematic and proactive evaluation of AIRE missense variant effects.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
Thymic inborn errors of immunity.
Pala F et al.
The Journal of Allergy and Clinical Immunology, 2025
Clinical and genetic characteristics of hypoparathyroidism in children: a multicenter experience in China.
Shen Y et al.
Journal of Endocrinological Investigation, 2025
A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.
Ochoa S et al.
Science Translational Medicine, 2024
Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants.
Aykut A et al.
Immunologic Research, 2024
Exploring Chronic Hypocalcemia: Insights into Autoimmune Polyglandular Syndrome Type 1-A Case Study and Literature Review.
Brad GF et al.
Journal of Clinical Medicine, 2024
Novel Insights into the Autoimmunity from the Genetic Approach of the Human Disease.
Peterson P
Advances in Experimental Medicine and Biology, 2024
Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes.
Oftedal BE et al.
Iscience, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.
Cranston T et al.
European Journal of Endocrinology, 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
Mechanistic dissection of dominant AIRE mutations in mouse models reveals AIRE autoregulation.
Goldfarb Y et al.
The Journal of Experimental Medicine, 2021
Infections in the monogenic autoimmune syndrome APECED.
Oikonomou V et al.
Current Opinion in Immunology, 2021
Autoimmune polyglandular syndrome type 1 with diabetes insipidus: a case report.
Chen J et al.
Bmc Endocrine Disorders, 2021
Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.
Zeevi DA et al.
Molecular Genetics & Genomic Medicine, 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
AIRE deficiency, from preclinical models to human APECED disease.
Besnard M et al.
Disease Models & Mechanisms, 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
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
Akler G et al.
Molecular Genetics & Genomic Medicine, 2020
Autoimmune Polyglandular Syndrome Type 1: a case report.
Sajjadi-Jazi SM et al.
Bmc Medical Genetics, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Constantine GM et al.
Immunological Reviews, 2019
APECED in Turkey: A case report and insights on genetic and phenotypic variability.
Fierabracci A et al.
Clinical Immunology (orlando, Fla.), 2018
A Novel Homozygous Mutation of the AIRE Gene in an APECED Patient From Pakistan: Case Report and Review of the Literature.
Pellegrino M et al.
Frontiers in Immunology, 2018
Chronic Mucocutaneous Candidiasis in Autoimmune Polyendocrine Syndrome Type 1.
Humbert L et al.
Frontiers in Immunology, 2018
A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1.
Zhu W et al.
Immunogenetics, 2017
Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study.
Zaidi G et al.
Endocrine Connections, 2017
Hypothyroidism associated with parathyroid disorders.
Mantovani G et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2017
AIRE-mutations and autoimmune disease.
Bruserud Ø et al.
Current Opinion in Immunology, 2016
Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Ferre EM et al.
Jci Insight, 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
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
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy.
Kisand K et al.
Journal of Clinical Immunology, 2015
Hypoparathyroidism and central diabetes insipidus: in search of the link.
Eyal O et al.
European Journal of Pediatrics, 2014
A novel mutation in autoimmune regulator gene causes autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Jin P et al.
Journal of Endocrinological Investigation, 2014
APECED: A Paradigm of Complex Interactions between Genetic Background and Susceptibility Factors.
De Martino L et al.
Frontiers in Immunology, 2013
Human APECED; a Sick Thymus Syndrome?
Arstila TP et al.
Frontiers in Immunology, 2013
Autoimmune polyglandular syndromes: interplay between the immune and the endocrine systems leading to a diverse set of clinical diseases and new insights into immune regulation.
Lebovitz HE
Diabetes Technology & Therapeutics, 2013
A novel heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED).
Fierabracci A et al.
Gene, 2012
Polyglandular autoimmune syndrome type I.
Proust-Lemoine E et al.
Presse Medicale (paris, France : 1983), 2012
[Autoimmune polyglandular syndrome type IIID in a girl].
Chen TT et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2012
Genetic basis of altered central tolerance and autoimmune diseases: a lesson from AIRE mutations.
Capalbo D et al.
International Reviews of Immunology, 2012
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients.
Meloni A et al.
The Journal of Clinical Endocrinology and Metabolism, 2012