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 |