|
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 |
Autoimmune regulator: from loss of function to autoimmunity.
|
12595897 |
2003 |
|
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 |
GeneticVariation
|
group |
BEFREE |
Autoimmune regulator (AIRE) gene is a responsible gene for the rare autosomal recessive autoimmune disease: autoimmune-polyendocrinopathy-candidiasis ectodermal dystrophy (APECED).
|
15894121 |
2005 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
AIRE gene variants and, in particular, heterozygous loss-of-function mutations were also discovered in organ-specific autoimmune disorders, possibly contributing to their etiopathogenesis.
|
23643663 |
2013 |
|
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 |
Biomarker
|
group |
BEFREE |
Autoimmune regulator (Aire) is essential in the perinatal period to prevent the multiorgan autoimmunity.
|
27965471 |
2017 |
|
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 |
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 |
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 |
Analysis of AIRE gene mutations together with serum autoantibody profile should be helpful in the assessment of patients with CH, in particular young women with associated autoimmune diseases.
|
20718774 |
2010 |
|
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 |
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 |
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 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 |
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 |
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 |
Autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (APECED) also known as autoimmune polyglandular syndrome type I, is a rare autosomal recessive disorder that results in several autoimmune diseases due to mutations in the AIRE (autoimmune regulator) gene.
|
12625412 |
2002 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a monogenic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene.
|
18600308 |
2008 |
|
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 |
GeneticVariation
|
group |
BEFREE |
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare recessive disorder that results in several autoimmune diseases due to the mutations in the AIRE (autoimmune regulator) gene.
|
11524733 |
2001 |
|
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 |
GeneticVariation
|
group |
BEFREE |
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, or APS1), is a monogenic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene.
|
16820279 |
2006 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED; APS-1) is an autosomal recessive autoimmune disease, caused by mutations in the AIRE (autoimmune regulator) gene.
|
12503856 |
2003 |
|
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 |