Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
The parallel identification and characterization of patient cohorts with the monogenic disorder autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), which is typically caused by biallelic AIRE mutations, has underscored the critical contribution of AIRE in fungal immune surveillance at mucosal surfaces and in prevention of multiorgan autoimmunity in humans.
|
30565240 |
2019 |
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Defects in central and peripheral tolerance, including mutations in AIRE and T regulatory cells respectively, are thought to be crucial in the development of ADs in these patients.
|
30795880 |
2019 |
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Genetic screening for the AIRE gene is useful in patients with suspected type I, whereas serological screening (i.e., diabetes/adrenal antibodies) is required in patients with monoglandular autoimmunity and suspected AP.
|
31127843 |
2019 |
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Furthermore, AIRE and FEZF2 mutations are associated with the development of autoimmunity in peripheral organs.
|
31008523 |
2019 |
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
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 |
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
In this review, we discuss the mechanisms of autoimmunity in PIDs and the characteristics of polyautoimmunity in the following PIDs: IPEX; monogenic IPEX-like syndrome; LRBA deficiency; CTLA4 deficiency; APECED; ALPS; and PKCδ deficiency.
|
30107266 |
2018 |
Autoimmune Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Paradoxical development of polymyositis-like autoimmunity through augmented expression of autoimmune regulator (AIRE).
|
28931462 |
2018 |
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Patients with AIRE mutations are susceptible to <i>Candida albicans</i> infection and present with autoimmune disorders.
|
29666621 |
2018 |
Autoimmune Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Altogether, various studies have demonstrated that increased female susceptibility to autoimmune diseases is in part a consequence of hormone-driven reduced thymic AIRE expression.
|
29291257 |
2018 |
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
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 |
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
We screened all participants for the seven genes known to cause monogenic autoimmunity that can include diabetes (AIRE, IL2RA, FOXP3, LRBA, STAT1, STAT3, STAT5B).
|
29417186 |
2018 |
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In particular, we address the following issues: 1) AIRE function and mTECs biology, 2) the impact of AIRE gene mutations in autoimmune diseases, and 3) the role of AIRE gene in anti-tumor immune response.
|
29427825 |
2018 |
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy-like Autoimmune Disease.
|
29959280 |
2018 |
Autoimmune Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
In this update, we focus on the most relevant results of Aire as a transcriptional and post-transcriptional controller of PTAs in mTECs, its mechanism of action, and its influence on the negative selection of autoreactive thymocytes as the bases of the induction of central tolerance and prevention of autoimmune diseases.
|
28871661 |
2018 |
Autoimmune Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
AIRE expression in thymus is downregulated by estrogen after puberty, what probably renders women more susceptible to autoimmune disorders.
|
30177771 |
2018 |
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Furthermore, the differentially expressed genes were enriched for AIRE-related genes, a well-known transcription factor associated with a broad range of autoimmune diseases.
|
29899393 |
2018 |
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in AIRE cause a monogenic autoimmune disease called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
|
28242760 |
2017 |
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
APECED patients with deficient autoimmune regulator (AIRE) gene collectively display a broad repertoire of high titer autoantibodies, including some which are pathognomonic for major autoimmune diseases.
|
28861084 |
2017 |
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Autoimmune polyendocrine syndrome type 1 (APS1) is a rare monogenic autoimmune disorder caused by mutations in the autoimmune regulator (AIRE) gene.
|
28557628 |
2017 |
Autoimmune Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
We previously showed that Jmjd6, a lysyl hydroxylase for splicing regulatory proteins, is important for Aire protein expression and that transplantation of Jmjd6-deficient thymic stroma into athymic nude mice resulted in multiorgan autoimmunity.
|
28546003 |
2017 |
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the autoimmune regulator gene disrupt thymic T cell development and negative selection, leading to the recessively inherited polyendocrine autoimmune disease autoimmune polyendocrine syndrome type 1 (APS-1).
|
28736829 |
2017 |
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by biallelic autoimmune regulator (<i>AIRE</i>) mutations that manifests with chronic mucocutaneous candidiasis (CMC) and autoimmunity.
|
28769929 |
2017 |
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Also, Aire -/- autoimmunity is driven by a variety of autoantigens where the autoimmune response is highly polyclonal, and access to the most adjacent immunologically active tissue is required to identify T cell receptor sequences that are potentially unique to the antigen in Aire-/- immunized mice.
|
28318808 |
2017 |
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Autoimmune regulator (Aire) is essential in the perinatal period to prevent the multiorgan autoimmunity.
|
27965471 |
2017 |
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Polymorphism in autoimmune regulator (AIRE) gene is associated with various autoimmune disorders.
|
28262400 |
2017 |