|
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 |
Biomarker
|
group |
BEFREE |
Loss of central tolerance in genetically determined autoimmune diseases, e.g., autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, is associated with defective expression by medullary thymic epithelial cells of AIRE, the transcription activator that induces thymic expression of tissue-specific antigens.
|
15696198 |
2005 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Patients with recessive CMC and autoimmunity have mutations in the autoimmune regulator AIRE.
|
21714643 |
2011 |
|
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.
|
21198756 |
2011 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is the first multiple autoimmune disease that has been shown to be caused by mutations of a single gene named autoimmune regulator (AIRE).
|
10946904 |
2000 |
|
Autoimmune Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Autoimmune regulator protein (AIRE), a transcription factor located on chromosome 21, plays a crucial role in autoimmunity by regulating promiscuous gene expression (pGE).
|
25217160 |
2014 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Autoimmune regulator (AIRE) gene mutation is responsible for the development of autoimmune-polyendocrinopathy-candidiasis ectodermal dystrophy, an organ-specific autoimmune disease with monogenic autosomal recessive inheritance.
|
14734522 |
2004 |
|
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 |
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 |
Biomarker
|
group |
BEFREE |
Loss-of-function mutations of the Autoimmune Regulator (AIRE) gene results in organ-specific autoimmunity and disease Autoimmune Polyendocrinopathy type 1 (APS1)/Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED).
|
26912174 |
2016 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This allows the establishment of central tolerance and contributes to the prevention of organ-specific autoimmunity, as shown by findings in patients with autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy (a disease caused by AIRE gene mutations) and in aire (-/-) mice.
|
15640689 |
2004 |
|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Autoimmunity in patients with APECED syndrome has been shown to result from deficiency of AIRE function in transcriptional regulation of thymic peripheral tissue antigens, which leads to defective T-cell negative selection.
|
21962774 |
2012 |
|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
In addition, the polymorphisms presented provide the tools for investigation of the involvement of AIRE in other autoimmune diseases, particularly those affecting the endocrine system.
|
9717837 |
1998 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Defects in the autoimmune regulator (AIRE) gene cause the monogenic autoimmune disease autoimmune polyendocrinopathy syndrome type 1 (APS-1), which is characterized by a loss of self-tolerance to multiple organs.
|
16876259 |
2006 |
|
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 |
GeneticVariation
|
group |
BEFREE |
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare disorder caused by mutations in the autoimmune regulator gene (AIRE) and characterized by a variable combination of organ-specific autoimmune diseases.
|
16114041 |
2005 |
|
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 |
Biomarker
|
group |
BEFREE |
Thus, androgen control of an intrathymic Aire-mediated tolerance mechanism contributes to gender differences in autoimmunity.
|
27072778 |
2016 |
|
Autoimmune Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
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 |
Biomarker
|
group |
BEFREE |
In mice, the absence of the analogous protein aire influences ectopic expression of peripheral tissue antigens in thymic medullary epithelial cells (MECs), resulting in the development of an autoimmune disorder similar to APECED and establishing aire/AIRE as an important player in the induction of central tolerance.
|
15790357 |
2005 |
|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Thus, the loss of lymphocyte homeostasis, whether through defects in apoptosis, suppression, or negative selection, leads to organ-specific autoimmunity in ALPS, IPEX, and APS1.
|
22224765 |
2012 |
|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
The data suggest that T-cell-dependent but also T-cell-independent mechanisms are involved in the dynamic evolution of autoimmunity in APS 1.
|
26312540 |
2015 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The two studied AIRE-1 mutations are so rare in the general population that they can not contribute to susceptibility for the more common isolated autoimmune disorders.
|
11298085 |
2001 |
|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Recent work on the monogenic autoimmune disease 'autoimmune polyglandular syndrome type 1' (APS1) and on the causal gene of this disorder--autoimmune regulator (AIRE)--is providing new lessons on how immune tolerance is maintained.
|
17466510 |
2007 |