|
Autoimmune polyendocrinopathy syndrome, type 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome is a rare monogenic autosomal recessive disorder caused by biallelic mutations in the <i>AIRE</i> (autoimmune regulator) gene.
|
31588815 |
2020 |
|
Autoimmune polyendocrinopathy syndrome, type 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Novel mutation in AIRE gene with autoimmune polyendocrine syndrome type 1.
|
31526676 |
2019 |
|
Autoimmune polyendocrinopathy syndrome, type 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Autoimmune regulator (AIRE) mutations result in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome characterized by defective central T cell tolerance and the production of many autoantibodies targeting tissue-specific antigens and cytokines.
|
30979797 |
2019 |
|
Autoimmune polyendocrinopathy syndrome, type 1
|
0.600 |
GeneticVariation
|
disease |
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 polyendocrinopathy syndrome, type 1
|
0.600 |
Biomarker
|
disease |
BEFREE |
Autoimmune regulator (AIRE) deficiency in humans induces a life-threatening generalized autoimmune disease called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), and no curative treatments are available.
|
29959280 |
2018 |
|
Autoimmune polyendocrinopathy syndrome, type 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene, characterized by the clinical triad of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal insufficiency.
|
30510552 |
2018 |
|
Autoimmune polyendocrinopathy syndrome, type 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a primary immunodeficiency caused by mutations in the autoimmune regulator gene (<i>AIRE</i>).
|
29666621 |
2018 |
|
Autoimmune polyendocrinopathy syndrome, type 1
|
0.600 |
Biomarker
|
disease |
BEFREE |
Here, we developed an IFN-α single molecule array assay with a limit of detection of 0.69 fg/mL using high-affinity autoantibodies isolated from patients with biallelic mutations in the autoimmune regulator (AIRE) protein causing autoimmune polyendocrinopathy syndrome type 1/autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APS1/APECED).
|
29985347 |
2018 |
|
Autoimmune polyendocrinopathy syndrome, type 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1.
|
28540407 |
2017 |
|
Autoimmune polyendocrinopathy syndrome, type 1
|
0.600 |
Biomarker
|
disease |
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 polyendocrinopathy syndrome, type 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by homozygous AIRE gene mutation.
|
28257655 |
2017 |
|
Autoimmune polyendocrinopathy syndrome, type 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a monogenic autoimmune disease caused by mutations in the AIRE gene.
|
26903483 |
2016 |
|
Autoimmune polyendocrinopathy syndrome, type 1
|
0.600 |
GeneticVariation
|
disease |
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 |
|
Autoimmune polyendocrinopathy syndrome, type 1
|
0.600 |
Biomarker
|
disease |
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 polyendocrinopathy syndrome, type 1
|
0.600 |
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 |
|
Autoimmune polyendocrinopathy syndrome, type 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Autoimmune regulator (Aire) mutations result in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), which manifests as multi-organ autoimmunity and chronic mucocutaneous candidiasis (CMC).
|
27916941 |
2016 |
|
Autoimmune polyendocrinopathy syndrome, type 1
|
0.600 |
Biomarker
|
disease |
BEFREE |
Autoimmune Regulator (AIRE) is a transcriptional regulator that is crucial for establishing central tolerance as illustrated by the Mendelian Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) syndrome associated with AIRE-inactivating recessive or dominant mutations.
|
27266815 |
2016 |
|
Autoimmune polyendocrinopathy syndrome, type 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene.
|
26141571 |
2015 |
|
Autoimmune polyendocrinopathy syndrome, type 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is caused by mutations in the AIRE gene.
|
25880100 |
2015 |
|
Autoimmune polyendocrinopathy syndrome, type 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Autoimmune polyendocrine syndrome type 1 (APS 1) is caused by mutations in the AIRE gene that induce intrathymic T-cell tolerance breakdown, which results in tissue-specific autoimmune diseases.
|
26312540 |
2015 |
|
Autoimmune polyendocrinopathy syndrome, type 1
|
0.600 |
GeneticVariation
|
disease |
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 polyendocrinopathy syndrome, type 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy (APECED) is caused by mutations in the Autoimmune regulator (AIRE) gene and is associated with neutralizing anti-cytokine autoantibodies.
|
24957984 |
2014 |
|
Autoimmune polyendocrinopathy syndrome, type 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1.
|
24988226 |
2014 |
|
Autoimmune polyendocrinopathy syndrome, type 1
|
0.600 |
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 |
|
Autoimmune polyendocrinopathy syndrome, type 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Although mutations of autoimmune regulator (AIRE) gene are responsible for autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), presenting a wide spectrum of many characteristic and non-characteristic clinical features, some patients lack AIRE gene mutations.
|
23954874 |
2013 |