|
Polyendocrinopathies, Autoimmune
|
0.400 |
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 |
|
Polyendocrinopathies, Autoimmune
|
0.400 |
Biomarker
|
group |
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 |
|
Polyendocrinopathies, Autoimmune
|
0.400 |
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 |
|
Polyendocrinopathies, Autoimmune
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also named as autoimmune polyglandular syndrome (APS) type 1, is a rare autosomal recessive disorder caused by mutations in autoimmune regulator (AIRE) gene.
|
27105486 |
2016 |
|
Polyendocrinopathies, Autoimmune
|
0.400 |
Biomarker
|
group |
BEFREE |
In this study we unravel the hypothesis on whether AIRE gene variants may predispose individuals to associated autoimmune conditions in 41 Italian patients affected by non-APECED autoimmune polyendocrinopathies.
|
23643663 |
2013 |
|
Polyendocrinopathies, Autoimmune
|
0.400 |
Biomarker
|
group |
BEFREE |
Thrombus sizes were significantly larger in C6(+/+) treated with IgG-APS1 or with IgG-APS2 or with IgM-APS when compared with C6(+/+) mice treated with IgG-NHS or with IgM-NHS, respectively.
|
22933620 |
2012 |
|
Polyendocrinopathies, Autoimmune
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The experimental groups consisted of normal control (n = 15), diabetic (n = 15), insulin-treated diabetic (n = 15, NPH 1-2 U/day ip), and APS-treated diabetic (n = 30, APS 1-2 g/kg/day orally for 10 weeks) hamsters.
|
19350199 |
2010 |
|
Polyendocrinopathies, Autoimmune
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Moreover, CMC is the principal, if not only, infection in patients with autosomal recessive autoimmune polyendocrinopathy syndrome-I (mutations in AIRE).
|
20674321 |
2010 |
|
Polyendocrinopathies, Autoimmune
|
0.400 |
Biomarker
|
group |
BEFREE |
Autoimmune polyendocrinopathy - candidosis - ectodermal dystrophy (APECED), also known as autoimmune polyendocrine/polyglandular syndrome type 1 (APS1), is a rare disease caused by mutations in the autoimmune regulator (AIRE) gene pair resulting in absence of active AIRE protein, which is essential for both central and peripheral self-tolerance.The phenotype is widely variable.
|
20118890 |
2009 |
|
Polyendocrinopathies, Autoimmune
|
0.400 |
GeneticVariation
|
group |
BEFREE |
An 8-year-old boy with autoimmune hepatitis and Candida onychosis as the first symptoms of autoimmune polyglandular syndrome (APS1): identification of a new homozygous mutation in the autoimmune regulator gene (AIRE).
|
17891543 |
2008 |
|
Polyendocrinopathies, Autoimmune
|
0.400 |
Biomarker
|
group |
CTD_human |
Defect internalization and tyrosine kinase activation in Aire deficient antigen presenting cells exposed to Candida albicans antigens.
|
16982213 |
2006 |
|
Polyendocrinopathies, Autoimmune
|
0.400 |
Biomarker
|
group |
BEFREE |
A defective form of the AIRE protein causes autoimmune destruction of target organs by disturbing the immunological tolerance of patients with a rare monogenic disease, autoimmune polyendocrinopathy (APE)-candidiasis (C)-ectodermal dystrophy (ED), APECED.
|
14974083 |
2004 |
|
Polyendocrinopathies, Autoimmune
|
0.400 |
AlteredExpression
|
group |
BEFREE |
The disturbance of AIRE expression may also be responsible for autoimmune manifestations in disorders with disrupted thymic structure other than autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy alone.
|
15640689 |
2004 |
|
Polyendocrinopathies, Autoimmune
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Since the initial recognition that Angelman syndrome is caused by maternal deficiency of the E6-AP ubiquitin E3 ligase (gene symbol UBE3A), several. other disorders of E3 ligases have been identified, including autosomal recessive juvenile Parkinson disease, the APECED form of autoimmune polyendocrinopathy syndrome, von Hippel-Lindau syndrome, and congenital polycythemia.
|
15273504 |
2004 |
|
Polyendocrinopathies, Autoimmune
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan.
|
12625412 |
2002 |
|
Polyendocrinopathies, Autoimmune
|
0.400 |
Biomarker
|
group |
LHGDN |
A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan.
|
12625412 |
2002 |
|
Polyendocrinopathies, Autoimmune
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Although autoimmune Addison's disease (AAD) may occur as a component of the monogenic autoimmune polyendocrinopathy type 1 syndrome (APS1), it is most commonly found as an isolated disorder or associated with the autoimmune polyendocrinopathy type 2 syndrome (APS2).
|
10690877 |
2000 |
|
Polyendocrinopathies, Autoimmune
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1.
|
9837820 |
1998 |
|
Polyendocrinopathies, Autoimmune
|
0.400 |
Biomarker
|
group |
BEFREE |
Autoimmune polyendocrinopathy-candidiasisectodermal dystrophy (APECED; also called APS-1,) is a rare autosomal recessive disorder that is more frequent in certain isolated populations.
|
9856486 |
1998 |