Associated Papers
Systematic and proactive evaluation of AIRE missense variant effects.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Lessons From Prospective Longitudinal Follow-up of a French APECED Cohort.
Humbert L et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
El Hawary RE et al.
Journal of Clinical Immunology, 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 (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
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
Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.
Kaseniit KE et al.
Clinical Genetics, 2019
Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.
Al-Herz W et al.
Frontiers in Immunology, 2018
Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study.
Zaidi G et al.
Endocrine Connections, 2017
Childhood Polyarthritis As Early Manifestation of Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy Syndrome.
Gutierrez MJ et al.
Frontiers in Immunology, 2017
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Anti-cytokine autoantibodies preceding onset of autoimmune polyendocrine syndrome type I features in early childhood.
Wolff AS et al.
Journal of Clinical Immunology, 2013
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation.
Capalbo D et al.
International Journal of Endocrinology, 2012
Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I.
Meloni A et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease.
F Magitta N et al.
European Journal of Endocrinology, 2008