Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The autoimmune regulator (AIRE) gene responsible for APS1 on chromosome 21q22.3 has recently been identified.
|
9921903 |
1998 |
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene autoimmune regulator (AIRE) cause autoimmune polyendocrinopathy candidiasis ectodermal dystrophy.
|
18292755 |
2008 |
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants in the autoimmune regulator (AIRE) gene are responsible for autoimmune polyendocrine syndrome type 1, of which AAD is a major disease component.
|
27211051 |
2016 |
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cloning of Aire, the mouse homologue of the autoimmune regulator (AIRE) gene responsible for autoimmune polyglandular syndrome type 1 (ASP1).
|
10049587 |
1999 |
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare recessive inherited disease caused by the mutation of the AIRE gene on chromosome 21.
|
25059117 |
2014 |
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Role of PHD fingers and COOH-terminal 30 amino acids in AIRE transactivation activity.
|
17675238 |
2008 |
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Autoimmune regulator (AIRE) gene on chromosome 21: implications for autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) any more common manifestations of endocrine autoimmunity.
|
12398240 |
2002 |
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
APECED mutations in the autoimmune regulator (AIRE) gene.
|
11524731 |
2001 |
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population.
|
17220063 |
2006 |
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by homozygous AIRE gene mutation.
|
28257655 |
2017 |
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Autoimmune polyglandular syndrome type I (APS 1, also called APECED) is an autosomal-recessive disorder that maps to human chromosome 21q22.3 between markers D21S49 and D21S171 by linkage studies.
|
9398839 |
1997 |
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Much has been learnt about the mechanisms of thymic self-tolerance induction from work on both the rare autosomal recessive disease autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) and the autoimmune regulator (AIRE) protein mutated in this disease.
|
21574164 |
2011 |
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Given its mapping position, C21orf2 is a candidate for involvement in disorders including autoimmune polyglandular disease type I (also called autoimmune polyendocrinopathy candidiasis ectodermal dystrophy or APECED) and the autosomal nonsyndromic deafness loci, DFNB8 and DFNB10.
|
9465297 |
1998 |
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) (or autoimmune polyendocrine syndrome type 1) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene.
|
23314667 |
2013 |
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
One of the three main syndromes, type 1 autoimmune polyglandular syndrome (APS-1), has a unique pathogenic mechanism owing to mutations in the autoimmune regulator (AIRE) gene, which results in the loss of central tolerance-a process by which developing T cells with potential reactivity for self-antigens are eliminated during early differentiation in the thymus.
|
20309000 |
2010 |
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The results of this study contribute to the delineation of the molecular pathology of the AIRE gene and enhance our ability to perform a molecular diagnosis in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.
|
11836330 |
2002 |
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We analyzed AIRE gene mutations and genotype-phenotype correlation in APECED patients originating from Sicily and in their relatives.
|
22024611 |
2012 |
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fourteen different mutations of the AIRE gene have been identified in 61 patients from 55 families with APECED.
|
10946904 |
2000 |
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The APECED-related AIRE gene mutations, which is R257X (Finn-major) in exon 6, 4-bp insertion and 13-bp deletion in exon 8, and Iranian Jews population 'Y85C' mutation in exon 2, were studied by PCR-RFLP (Taq-I), PCR and nucleotide sequencing, respectively.CaSRAb were studied by immunoblotting.
|
16313305 |
2005 |
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
Biomarker
|
disease |
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 |
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular background and genotype-phenotype correlation in autoimmune-polyendocrinopathy-candidiasis-ectodermal-distrophy patients from Campania and in their relatives.
|
21508664 |
2012 |
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
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 |
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A case description and literature search for APECED cases presenting with myopathy and analysis of AIRE gene expression in biopsied muscles from 4 healthy volunteers and the patient by reverse transcriptase polymerase chain reaction.
|
22581549 |
2012 |
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sequence analysis of all 14 exons of the AIRE gene revealed a R257 X mutation in exon 6 resulting in a nonsense mutation at codon 257 confirming the diagnosis of APECED.
|
12951636 |
2003 |
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1.
|
24988226 |
2014 |