Associated Papers
Early-onset Chronic Keratitis as the First Presenting Component of Autoimmune Polyendocrine Syndrome Type 1: A Case Report and Review of the Literature
Şimşek E et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Lessons From Prospective Longitudinal Follow-up of a French APECED Cohort.
Humbert L et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Thymic inborn errors of immunity.
Pala F et al.
The Journal of Allergy and Clinical Immunology, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
The CRISPR-Cas9 System Is Used to Edit the Autoimmune Regulator Gene in Vitro and in Vivo.
Tanaka PP et al.
Advances in Experimental Medicine and Biology, 2025
Case Report: Life-threatening overlap of hemophagocytic syndrome and atypical hemolytic uremic syndrome in a patient with autoimmune polyglandular syndrome type 1 successfully treated with targeted immunotherapy.
Coppola E et al.
Frontiers in Immunology, 2025
Bronchiectasis in a patient with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: a case report.
Silani MS et al.
Bmc Pulmonary Medicine, 2024
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
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Role of IL-27 in Epstein-Barr virus infection revealed by IL-27RA deficiency.
Martin E et al.
Nature, 2024
Novel homozygous mutations in AIRE leading to APS-1 and potential mechanisms based on bioinformatics analysis.
Wu H et al.
Heliyon, 2024
Novel Insights into the Autoimmunity from the Genetic Approach of the Human Disease.
Peterson P
Advances in Experimental Medicine and Biology, 2024
Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1.
Lévy R et al.
Journal of Clinical Immunology, 2023
Leber congenital amaurosis as the initial and essential manifestation in a Chinese patient with autoimmune polyglandular syndrome Type 1.
Wei X et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2023
Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes.
Oftedal BE et al.
Iscience, 2023
A Novel Homozygous Mutation of AIRE Gene in a Patient With Autoimmune Polyglandular Syndrome Type I.
Tautiva-Rojas CM et al.
Cureus, 2023
Clinical and Immunologic Characteristics of Non-Hematologic Cancers in Patients with Inborn Errors of Immunity.
Delavari S et al.
Cancers, 2023
Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.
Cranston T et al.
European Journal of Endocrinology, 2022
Steroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiency.
Seven Menevse T 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
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.
Garelli S et al.
Journal of Endocrinological Investigation, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Autoimmune polyglandular syndrome type 1 with diabetes insipidus: a case report.
Chen J et al.
Bmc Endocrine Disorders, 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
Case Report: Rituximab Improved Epileptic Spasms and EEG Abnormalities in an Infant With West Syndrome and Anti-NMDAR Encephalitis Associated With APECED.
Kawano G et al.
Frontiers in Neurology, 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 novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1.
Zheng WB et al.
Molecular Medicine Reports, 2020
Delay in the Diagnosis of APECED: A Case Report and Review of Literature from Iran.
Jamee M et al.
Immunological Investigations, 2020
[Clinical case report: history of diagnosis and clinical features of type autoimmune polyglandular syndrome 1].
Troshina VV et al.
Problemy Endokrinologii, 2019
Novel mutation in AIRE gene with autoimmune polyendocrine syndrome type 1.
Fardi Golyan F et al.
Immunobiology, 2019
Autoimmune Polyglandular Syndrome Type 1: a case report.
Sajjadi-Jazi SM et al.
Bmc Medical Genetics, 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
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study.
Zaidi G et al.
Endocrine Connections, 2017
β-defensin CNV is not associated with susceptibility to Candida albicans infections in Sardinian APS I patients.
Incani F et al.
Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 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