|
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In addition, clinical features and autoimmune regulator (AIRE) genotype for the APS-1 patients were analyzed.
|
28099118 |
2017 |
|
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The AIRE genes of the patient and his family members were sequenced to identify whether the APS-1 patient had an AIRE mutation.
|
28540407 |
2017 |
|
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the autoimmune regulator gene disrupt thymic T cell development and negative selection, leading to the recessively inherited polyendocrine autoimmune disease autoimmune polyendocrine syndrome type 1 (APS-1).
|
28736829 |
2017 |
|
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
GAD antibody-associated limbic encephalitis in a young woman with APECED.
|
28567288 |
2017 |
|
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study.
|
28446514 |
2017 |
|
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autoimmune polyendocrine syndrome type 1 (APS1) is a rare monogenic autoimmune disorder caused by mutations in the autoimmune regulator (AIRE) gene.
|
28557628 |
2017 |
|
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Inborn errors of the immune system (primary immune deficiencies) can present with isolated CMC known as CMC disease (CMCD), which is most often found in patients with autoimmune polyendocrinopathy syndrome type 1 (APS1)/APECED or in patients with an underlying gain-of-function STAT1 mutation (GOF-STAT1).
|
28815025 |
2017 |
|
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED) is a rare disorder of immune dysregulation caused by mutations in the autoimmune regulator (<i>AIRE</i>) gene.
|
28458664 |
2017 |
|
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in AIRE cause a monogenic autoimmune disease called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
|
28242760 |
2017 |
|
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 biallelic autoimmune regulator (<i>AIRE</i>) mutations that manifests with chronic mucocutaneous candidiasis (CMC) and autoimmunity.
|
28769929 |
2017 |
|
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 |
Biomarker
|
disease |
BEFREE |
To our knowledge, these data are the first to show dysregulated responses to non-self commensal Ags in APECED and indicate that AIRE contributes to the regulation of gut homeostasis, at least indirectly.
|
26903483 |
2016 |
|
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To describe the phenotypes of APS1 and correlate the clinical features with autoantibody profiles and autoimmune regulator (AIRE) mutations during extended follow-up (1996-2016).
|
27253668 |
2016 |
|
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.
|
26915675 |
2016 |
|
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
AIRE-mutations and autoimmune disease.
|
27504588 |
2016 |
|
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
|
27588307 |
2016 |
|
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Functional Domains of Autoimmune Regulator (AIRE) Modulate INS-VNTR Transcription in Human Thymic Epithelial Cells.
|
27048654 |
2016 |
|
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
|
27588307 |
2016 |
|
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
More than 15 years ago, mutations in the autoimmune regulator (AIRE) gene were identified as the cause of autoimmune polyglandular syndrome type 1 (APS1).
|
26972725 |
2016 |
|
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Autoimmune regulator (AIRE), the causative gene in autoimmune polyendocrine syndrome type-1 (APS-1), is crucial for the establishment of self-tolerance in the thymus by promoting promiscuous expression of a wide array of tissue-restricted self-antigens.
|
27088911 |
2016 |
|
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Consistent with this, many APS1/APECED patients harbored extremely high-affinity, neutralizing autoantibodies, particularly against specific cytokines.
|
27426947 |
2016 |
|
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Eight percentage of patients with isolated HP had elevated IFN-α antibody levels and AIRE mutation-positive APS1.
|
27219120 |
2016 |
|
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two had the same homozygous mutation in the AIRE gene which is associated with type 1 autoimmune polyglandular syndrome.
|
26650942 |
2016 |
|
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
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 |
|
Polyglandular Type I Autoimmune Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Type 1 autoimmune polyglandular syndrome (APS1) is a rare autosomal recessive disease, caused by mutations in the autoimmune regulator gene (AIRE); the encoded Aire protein plays an important role in the establishment of the immunological tolerance acting as a transcriptional regulator of the expression of organ-specific antigens within the thymus in perinatal age.
|
27420045 |
2016 |