Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Polyglandular Type I Autoimmune Syndrome
1.000 GeneticVariation disease BEFREE Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome is a rare monogenic autosomal recessive disorder caused by biallelic mutations in the <i>AIRE</i> (autoimmune regulator) gene. 31588815 2020
Polyglandular Type I Autoimmune Syndrome
1.000 Biomarker disease BEFREE <b>Abbreviations:</b> AA: Alopecia areata; AIRE: Autoimmune Regulator; APECED: Autoimmune, Polyendocrinopathy Candidiasis Ectodermal Dystrophy; DLQI: Dermatology life quality index questionnaire; MIQE: Minimum information for publication of quantitative real-time PCR experiments; mTEC: Medullary thymic epithelial cells; PHD: Plant homeodomain; qRT-PCR: Quantitative reversetranscription-polymerase chain reaction; RA: Rheumatoid arthritis. 31601134 2020
Polyglandular Type I Autoimmune Syndrome
1.000 GeneticVariation disease BEFREE Mutations of the autoimmune regulator gene (AIRE), located on chromosome 21q22.3, are recognized as the cause of a rare monogenic organ-specific autoimmune disorder called autoimmune polyglandular syndrome type 1 (APS-1). 31420020 2019
Polyglandular Type I Autoimmune Syndrome
1.000 Biomarker disease BEFREE To confirm whether Aire in DCs affects T<sub>FH</sub> cell differentiation and to determine the role of Aire in the maintenance of peripheral immune tolerance, this study observed the effects of Aire deficiency on T<sub>FH</sub> cells using Aire knockout mice. 31023489 2019
Polyglandular Type I Autoimmune Syndrome
1.000 GeneticVariation disease BEFREE Pure Red Cell Aplasia (PRCA) and Cerebellar Hypoplasia as Atypical Features of Polyglandular Autoimmune Syndrome Type I (APS-1): Two Sisters With the Same AIRE Mutation but Different Phenotypes. 30863741 2019
Polyglandular Type I Autoimmune Syndrome
1.000 Biomarker disease BEFREE In 2016, we reported four substantial observations of APECED/APS1 patients, who are deficient in AIRE, a major regulator of central T cell tolerance (Meyer et al., 2016). 31244472 2019
Polyglandular Type I Autoimmune Syndrome
1.000 Biomarker disease BEFREE Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. 30565240 2019
Polyglandular Type I Autoimmune Syndrome
1.000 GeneticVariation disease BEFREE Autoimmune regulator (AIRE) mutations result in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome characterized by defective central T cell tolerance and the production of many autoantibodies targeting tissue-specific antigens and cytokines. 30979797 2019
Polyglandular Type I Autoimmune Syndrome
1.000 GeneticVariation disease BEFREE Novel mutation in AIRE gene with autoimmune polyendocrine syndrome type 1. 31526676 2019
Polyglandular Type I Autoimmune Syndrome
1.000 Biomarker disease BEFREE As STAT1 mutations cause dominant chronic mucocutaneous candidiasis and decreased STAT1 levels in monocytes of autoimmune polyglandular syndrome 1 (APS-1) patients, it was important to further characterize AIRE-STAT1 interactions. 30002654 2018
Polyglandular Type I Autoimmune Syndrome
1.000 GeneticVariation disease BEFREE Autoimmune regulator (AIRE), whose gene mutation is considered to be a causative factor of autoimmune polyglandular syndrome type 1 (APS1), is an important transcriptional regulator. 30255105 2018
Polyglandular Type I Autoimmune Syndrome
1.000 Biomarker disease BEFREE Here, we developed an IFN-α single molecule array assay with a limit of detection of 0.69 fg/mL using high-affinity autoantibodies isolated from patients with biallelic mutations in the autoimmune regulator (AIRE) protein causing autoimmune polyendocrinopathy syndrome type 1/autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APS1/APECED). 29985347 2018
Polyglandular Type I Autoimmune Syndrome
1.000 Biomarker disease BEFREE Possible occult APS1 was investigated by cytokine autoantibody measurement and AIRE gene analysis. 28941288 2018
Polyglandular Type I Autoimmune Syndrome
1.000 Biomarker disease BEFREE Altogether, our data demonstrate that AIRE-deficient rat is a relevant APECED animal model, opening new opportunity to test curative therapeutic treatments. 29959280 2018
Polyglandular Type I Autoimmune Syndrome
1.000 Biomarker disease BEFREE Clinical or serological support for APS1 should warrant DNA sequencing and copy number analysis of AIRE to enable early diagnosis and prevention of lethal complications. 29069385 2018
Polyglandular Type I Autoimmune Syndrome
1.000 GeneticVariation disease BEFREE Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene, characterized by the clinical triad of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal insufficiency. 30510552 2018
Polyglandular Type I Autoimmune Syndrome
1.000 GeneticVariation disease BEFREE Pathogenic AIRE variants cause the autoimmune polyglandular syndrome type 1, which is a rare and complex disease that is gaining attention in research on autoimmunity. 29483906 2018
Polyglandular Type I Autoimmune Syndrome
1.000 GeneticVariation disease BEFREE Twenty years ago, the autoimmune regulator (Aire) gene was associated with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, and was cloned and sequenced. 28871661 2018
Polyglandular Type I Autoimmune Syndrome
1.000 Biomarker disease BEFREE The past decades have witnessed dramatic progress in elucidating the function of AIRE and conducting large-scale cohort studies in APS-1. 29108822 2018
Polyglandular Type I Autoimmune Syndrome
1.000 GeneticVariation disease BEFREE The presence of the homozygous R257X mutation of the AIRE gene confirmed the diagnosis of APECED syndrome. 30018023 2018
Polyglandular Type I Autoimmune Syndrome
1.000 GeneticVariation disease BEFREE Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by homozygous AIRE gene mutation. 28257655 2017
Polyglandular Type I Autoimmune Syndrome
1.000 CausalMutation disease CLINVAR Altered Immune Activation and IL-23 Signaling in Response to Candida albicans in Autoimmune Polyendocrine Syndrome Type 1. 28919897 2017
Polyglandular Type I Autoimmune Syndrome
1.000 GeneticVariation disease CLINVAR Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study. 28446514 2017
Polyglandular Type I Autoimmune Syndrome
1.000 GeneticVariation disease BEFREE Our findings indicate that biallelic mutations in AIRE can cause isolated HYPO as well as syndromic APS-1. 28323927 2017
Polyglandular Type I Autoimmune Syndrome
1.000 GeneticVariation disease BEFREE The spectrum of phenotypes and AIRE mutation in APS-1 has been expanded. 28911151 2017