|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
The description of an uncommon case of type 2 APS with precocious presentation associated with an AIRE mutation in a very young girl could help to clarify the role of AIRE in the development of autoimmune diseases.
|
25402387 |
2016 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Both humans and mice with a mutation in the autoimmune regulator (aire) gene develop multiorgan autoimmune disease.
|
17360567 |
2007 |
|
Autoimmune Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
These findings reveal a critical function of AIRE and the interferon signalling pathway in regulating quantitative expression of this auto-antigen in the thymus, suggesting that together they set the threshold for self-tolerance versus autoimmunity.
|
17687331 |
2007 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Genetic basis of altered central tolerance and autoimmune diseases: a lesson from AIRE mutations.
|
23083345 |
2012 |
|
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 |
GeneticVariation
|
group |
BEFREE |
Autoimmune polyglandular syndrome type 1 (APS-1), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare autoimmune disease that results from autosomal recessive mutations of the human autoimmune regulatory (AIRE) gene.
|
24945421 |
2014 |
|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
The recent characterization of AIRE knockout mice with similar immune pathological findings compared to the human setting will help to elucidate endocrine autoimmunity.
|
12398240 |
2002 |
|
Autoimmune Diseases
|
0.100 |
AlteredExpression
|
group |
LHGDN |
The infrequent and low expression of AIRE mRNA may play a role the induction of autoimmune diseases but other factors also seem to be involved.
|
18568643 |
2008 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
As both siblings were carrying the same mutation but exhibited a different APS-1 onset, and one of the brothers was not clinically diagnosed, our finding highlights the possibility to suspect mutations in the AIRE gene in cases of childhood chronic candidiasis and/or hypoparathyroidism otherwise unexplained, especially when the phenotype is associated with other autoimmune diseases.
|
24988226 |
2014 |
|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Autoimmune polyendocrinopathy syndrome type 1 (APS-1; MIM# 240300) is a rare autosomal recessively inherited disease characterised by destructive autoimmune diseases of endocrine glands.
|
9888391 |
1999 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In contrast to many other autoimmune diseases, APECED is associated with mutations of a single gene, designated autoimmune regulator (AIRE).
|
12784192 |
2003 |
|
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 |
Biomarker
|
group |
BEFREE |
Autoimmune regulator: from loss of function to autoimmunity.
|
12595897 |
2003 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
These observations support the view that additional genetic and/or environmental factors contribute substantially to the overt nature of autoimmunity associated with Aire mutations, even for mutations identical to those found in humans with APECED.
|
19265170 |
2009 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in AIRE cause a rare autosomal-recessive disease, autoimmune polyendocrine syndrome type 1 (APS-1), distinguished by multi-organ autoimmunity.
|
26084028 |
2015 |
|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
More recently, the role of Aire in the development of mTECs has helped elucidate its ability to present the spectrum of TSAs needed to prevent autoimmunity.
|
26579596 |
2015 |
|
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 |
AlteredExpression
|
group |
BEFREE |
We conclude that polymorphisms within the NOD Ica1 core promoter may determine AIRE-mediated down-regulation of ICA69 expression in medullary thymic epithelial cells, thus providing a novel mechanistic explanation for the loss of immunologic tolerance to this self-antigen in autoimmunity.
|
22447927 |
2012 |
|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
In this review recent discoveries are presented into the role and molecular mechanisms of the AIRE protein in APECED and other autoimmune diseases.
|
20850570 |
2011 |
|
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 |
Mutations in AIRE cause a monogenic autoimmune disease called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
|
28242760 |
2017 |
|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Autoimmune polyglandular syndrome type 1 [APS-1] comprises multiple organ-specific autoimmunities such as acquired hypoparathyroidism and autoimmune Addison's disease, and a predisposition to certain infections such as chronic mucocutaneous candidiasis.
|
9650097 |
1998 |
|
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 |