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
Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report.
Hanna-Wakim R et al.
Genes, 2026
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
Rekerle L et al.
American Journal of Human Genetics, 2026
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Precision T cell correction platform for inborn errors of immunity.
Mamia K et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility.
Vemula M et al.
Journal of Human Immunity, 2025
Genetic screening in a large Chinese cohort of adult-onset non-surgical hypoparathyroidism.
Yang J et al.
Endocrine, 2025
Pathogenic variants reveal candidate genes for prostate cancer germline testing for men of African ancestry.
Gheybi K et al.
Nature Communications, 2025
Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.
Kablan A et al.
Clinical Genetics, 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
Registry-Based Frequency and Clinical Characteristics of Inborn Errors of Immunity in Kazakhstan: A Retrospective Observational Cohort Study (2009-2023).
Sikhayeva N et al.
Journal of Clinical Medicine, 2025
Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing.
Pantea CL et al.
Scientific Reports, 2025
Delayed diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a Vietnamese adolescent male presenting with hypotension.
Le BT et al.
Bmj Case Reports, 2025
Hypermobile Ehlers-Danlos Syndrome: Diagnostic Challenges and the Role of Genetic Testing.
Forghani I et al.
Genes, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
Rekerle L et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Novel recurrent mutations and genetic diversity in Sudanese children with adrenal insufficiency.
Musa SA et al.
European Journal of Endocrinology, 2025
Pediatric hypoparathyroidism: etiological and clinical evaluation in a tertiary center.
Kocabey Sütçü Z et al.
Endocrine, 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
High-resolution transcriptional impact of AIRE: effects of pathogenic variants p.Arg257Ter, p.Cys311Tyr, and polygenic risk variant p.Arg471Cys.
Berger AH et al.
Frontiers in Immunology, 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
Case Report: Clinical and molecular features of a radiosensitive autoimmune polyendocrine syndrome type 1 patient with oral carcinoma.
Chikhaoui A et al.
Frontiers in Genetics, 2025
Systematic assessment of COVID-19 host genetics using whole genome sequencing data.
Schmidt A et al.
Plos Pathogens, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Partial Lipodystrophy Affecting the Extremities in a Young Woman With Autoimmune Polyglandular Syndrome 1.
Agarwal S et al.
Jcem Case Reports, 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
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 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
Genetic Characteristics of a Large Pediatric Cohort of Patients with Inborn Errors of Immunity: Single-Center Experience.
Kuzmenko N et al.
Journal of Clinical Immunology, 2024
Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population.
Kovanda A et al.
International Journal of Molecular Sciences, 2024
Early recognition of the APECED rash can accelerate the diagnosis of APECED.
Ferré EMN et al.
Clinical Immunology Communications, 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 homozygous mutations in AIRE leading to APS-1 and potential mechanisms based on bioinformatics analysis.
Wu H et al.
Heliyon, 2024
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
Expanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent Mutations.
Sahin I et al.
Cureus, 2024
Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testing.
Vogt EC et al.
Human Reproduction (oxford, England), 2024
Novel Insights into the Autoimmunity from the Genetic Approach of the Human Disease.
Peterson P
Advances in Experimental Medicine and Biology, 2024
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
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