Associated Papers
Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report.
Hanna-Wakim R et al.
Genes, 2026
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Systematic and proactive evaluation of AIRE missense variant effects.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
Molecular genetics and long-term outcomes of primary distal renal tubular acidosis in Asia.
Thakare S et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025
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
Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases.
Sivakumaran TA et al.
Genetics in Medicine Open, 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 mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
A novel missense mutation in the AIRE gene underlying autoimmune polyglandular syndrome type 1.
Vitozzi S et al.
Immunogenetics, 2024
Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1.
Lévy R et al.
Journal of Clinical Immunology, 2023
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy-Associated Hepatitis.
Mesbah Z et al.
Acg Case Reports Journal, 2023
A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1.
Oftedal BE et al.
The Journal of Clinical Investigation, 2023
APECED Rash as the First Manifestation of APECED Syndrome.
Ferré EMN et al.
Journal of Clinical Immunology, 2023
APECED and the place of AIRE in the puzzle of the immune network associated with autoimmunity.
Aytekin ES et al.
Scandinavian Journal of Immunology, 2023
Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency.
Shekari S et al.
Nature Medicine, 2023
Bone Tissue Evaluation Indicates Abnormal Mineralization in Patients with Autoimmune Polyendocrine Syndrome Type I: Report on Three Cases.
Laakso S et al.
Calcified Tissue International, 2023
Portrait of autosomal recessive diseases in the French-Canadian founder population of Saguenay-Lac-Saint-Jean.
Cruz Marino T et al.
American Journal of Medical Genetics. Part A, 2023
Selected Genetic Factors Associated with Primary Ovarian Insufficiency.
Chen M et al.
International Journal of Molecular Sciences, 2023
Landscape of pathogenic mutations in premature ovarian insufficiency.
Ke H et al.
Nature Medicine, 2023
Analysis of a series of Italian APECED patients with autoimmune hepatitis and gastro-enteropathies.
Paldino G et al.
Frontiers in Immunology, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.
Heddar A et al.
Ebiomedicine, 2022
Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.
Cranston T et al.
European Journal of Endocrinology, 2022
A Case Report of Fatal Mucormycosis in a 30-Year-Old Patient with Autoimmune Polyendocrine Syndrome Type 1.
Rosenberg JM et al.
Journal of Clinical Immunology, 2022
Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders.
Robichaud PP et al.
Bmc Medical Genomics, 2022
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
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.
Baxter SK et al.
The Journal of Allergy and Clinical Immunology, 2022
French-Canadian families from Saguenay-Lac-Saint-Jean: a new founder population for APECED.
Cruz Marino T et al.
Endocrine, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
Recurrent Hypokalemia and Adrenal Steroids in Patients With APECED.
Borchers J et al.
Frontiers in Endocrinology, 2022
AIRE mutation triggering acute liver failure: between genetic testing and treatment options.
Pietrobattista A et al.
Pediatric Transplantation, 2021
Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.
Garelli S et al.
Journal of Endocrinological Investigation, 2021
Patients with autoimmune polyendocrine syndrome type 1 have an increased susceptibility to severe herpesvirus infections.
Hetemäki I et al.
Clinical Immunology (orlando, Fla.), 2021
Rare genetic mutation triggering acute liver failure in a toddler requiring a liver transplant.
Chen CB et al.
Pediatric Transplantation, 2021
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
Late-onset autoimmune polyendocrine syndrome type 1: a case report and literature review.
Zhan F et al.
Immunologic Research, 2021
APECED-Associated Hepatitis: Clinical, Biochemical, Histological and Treatment Data From a Large, Predominantly American Cohort.
Chascsa DM et al.
Hepatology (baltimore, Md.), 2021
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes.
Carpino A et al.
Genes, 2021
Fatal autoimmune pneumonitis requiring bilobectomy and omental flap repair in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
Kubala SA et al.
Respiratory Medicine Case Reports, 2021
Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1.
Jacobson JD et al.
Case Reports in Endocrinology, 2021
Case Report: Dental Findings Can Aid in Early Diagnosis of APECED Syndrome.
Brenchley L et al.
Frontiers in Dental Medicine, 2021
Severe Phenotype of APECED (APS1) Increases Risk for Structural Bone Alterations.
Laakso S et al.
Frontiers in Endocrinology, 2020