Hypothyroidism
|
0.010 |
Biomarker
|
disease |
BEFREE |
Detailed workup to check for evolving APS II is prudent in a hypothyroid patient presenting with pallor and jaundice.
|
30962212 |
2019 |
Icterus
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Detailed workup to check for evolving APS II is prudent in a hypothyroid patient presenting with pallor and jaundice.
|
30962212 |
2019 |
Sjogren's Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
She was diagnosed as autoimmune polyglandular syndrome (APS) (Hashimoto thyroiditis and possible primary adrenal insufficiency) as well as primary hypoparathyroidism and Sjögren's syndrome, which are very rarely complicated in APS-2.
|
31133546 |
2019 |
Primary Adrenal Insufficiency
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
She was diagnosed as autoimmune polyglandular syndrome (APS) (Hashimoto thyroiditis and possible primary adrenal insufficiency) as well as primary hypoparathyroidism and Sjögren's syndrome, which are very rarely complicated in APS-2.
|
31133546 |
2019 |
Asthma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Gene-based analysis revealed that NUDT10 was the most consistently associated with asthma symptoms in discovery sample.
|
28120837 |
2017 |
Autoimmune thyroid disease (AITD)
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Dividing the APS collective into those with Addison's disease (APS type II) and those without Addison's disease but including type 1 diabetes and AITD (APS type III) demonstrated DR3-DQ2/DRB1*04:01-DQ8 as a susceptibility genotype in APS III (Pc<.001), whereas the DR3-DQ2/DRB1*04:04-DQ8 genotype correlated with APS II (Pc<.001).
|
24187405 |
2014 |
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
This Review discusses the genetic basis of APS-1, APS-2 and IPEX syndrome, with an emphasis on the mechanisms of autoimmunity and presents currently available therapies to treat their underlying autoimmune disorders.
|
20309000 |
2010 |
Autoimmune polyendocrinopathy syndrome, type 1
|
0.010 |
Biomarker
|
disease |
BEFREE |
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also named autoimmune polyglandular syndrome type 1 (APS-1), is distinguished from autoimmune polyglandular syndrome 2 (APS-2).
|
19676003 |
2009 |
Autoimmune Polyglandular Syndrome
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also named autoimmune polyglandular syndrome type 1 (APS-1), is distinguished from autoimmune polyglandular syndrome 2 (APS-2).
|
19676003 |
2009 |
Alopecia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Therefore, our results indicate an association between DQA1*0301 and APS II or III since this allele was otherwise not significantly associated with any of its component diseases except alopecia.
|
12734793 |
2003 |
Graves Disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
We determined the HLA-DR and HLA-DQA1 association in 112 unrelated patients with APS II (n = 29), APS III (n = 83) and 184 unrelated patients with single-component diseases without further manifestations of APS: Graves' disease (n = 70), Hashimoto's thyroiditis (n = 53), autoimmune Addison's disease (n = 15), vitiligo (n = 16) and alopecia (n = 30), and 72 healthy controls - German Caucasians - to identify possible predisposing and protective HLA class II alleles in APS.
|
12734793 |
2003 |
Stiff-Person Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
Autoantibodies to GAD, an important marker of the autoimmune process in type I or insulin-dependent diabetes mellitus (IDDM), are also found in non-diabetic individuals with autoimmune polyendocrine syndrome type 1 (APS1), APS2, and stiff man syndrome (SMS).
|
10594551 |
1999 |
Smith-Magenis syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
Autoantibodies to GAD, an important marker of the autoimmune process in type I or insulin-dependent diabetes mellitus (IDDM), are also found in non-diabetic individuals with autoimmune polyendocrine syndrome type 1 (APS1), APS2, and stiff man syndrome (SMS).
|
10594551 |
1999 |
Autoimmune thyroid disease
|
0.020 |
Biomarker
|
disease |
BEFREE |
It seems likely that the 307Ser variant of the CD226 receptor is associated with APS2 because of its underlying association with type 1 diabetes and autoimmune thyroid disease.
|
21521299 |
2011 |
Vitiligo
|
0.020 |
Biomarker
|
disease |
BEFREE |
We determined the HLA-DR and HLA-DQA1 association in 112 unrelated patients with APS II (n = 29), APS III (n = 83) and 184 unrelated patients with single-component diseases without further manifestations of APS: Graves' disease (n = 70), Hashimoto's thyroiditis (n = 53), autoimmune Addison's disease (n = 15), vitiligo (n = 16) and alopecia (n = 30), and 72 healthy controls - German Caucasians - to identify possible predisposing and protective HLA class II alleles in APS.
|
12734793 |
2003 |
Autoimmune thyroid disease
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
However, previous studies had suggested that the HLA-DQ genes, especially DQA1*0102, may be a genetic marker for resistance to autoimmune thyroid disease, which is the most frequent disease in APS II or III.
|
12734793 |
2003 |
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
|
0.020 |
Biomarker
|
disease |
BEFREE |
We determined the HLA-DR and HLA-DQA1 association in 112 unrelated patients with APS II (n = 29), APS III (n = 83) and 184 unrelated patients with single-component diseases without further manifestations of APS: Graves' disease (n = 70), Hashimoto's thyroiditis (n = 53), autoimmune Addison's disease (n = 15), vitiligo (n = 16) and alopecia (n = 30), and 72 healthy controls - German Caucasians - to identify possible predisposing and protective HLA class II alleles in APS.
|
12734793 |
2003 |
Vitiligo
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Human leukocyte antigen (HLA)-DRB1 and -DQB1 alleles were analyzed using a PCR-based sequence-specific priming technique in 16 patients with autoimmune polyglandular syndrome type I (APS-I), 31 patients with APS-II, and 110 patients with component diseases of APS-II, including 9 patients with isolated Addison's disease, 43 patients with Hashimoto's thyroiditis, 22 patients with Graves' disease, and 36 patients with vitiligo.
|
8675578 |
1996 |
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Human leukocyte antigen (HLA)-DRB1 and -DQB1 alleles were analyzed using a PCR-based sequence-specific priming technique in 16 patients with autoimmune polyglandular syndrome type I (APS-I), 31 patients with APS-II, and 110 patients with component diseases of APS-II, including 9 patients with isolated Addison's disease, 43 patients with Hashimoto's thyroiditis, 22 patients with Graves' disease, and 36 patients with vitiligo.
|
8675578 |
1996 |
Autoimmune Diseases
|
0.030 |
Biomarker
|
group |
BEFREE |
Whereas most of the heritable risk for PCA and other antibodies reflects genetic effects that are tissue specific, parietal cell autoimmunity is a major pathogenetic contributor in APS2.
|
26405069 |
2015 |
Autoimmune Diseases
|
0.030 |
Biomarker
|
group |
BEFREE |
Non-HLA genes also contribute to autoimmunity in APS-2 and, depending on the polymorphism, potentially predispose to a loss of tolerance or influence which organ is specifically targeted.
|
20309000 |
2010 |
Autoimmune Diseases
|
0.030 |
GeneticVariation
|
group |
BEFREE |
To delineate the associations between HLA-DRB1, DQB1, and APS-II, we analyzed APS-II patients with or without beta-cell autoimmunity [i.e. insulin-dependent diabetes (IDD) and/or islet cell or glutamic acid decarboxylase autoantibodies].
|
8675578 |
1996 |
Polyendocrinopathies, Autoimmune
|
0.050 |
GeneticVariation
|
group |
BEFREE |
She was diagnosed as autoimmune polyglandular syndrome (APS) (Hashimoto thyroiditis and possible primary adrenal insufficiency) as well as primary hypoparathyroidism and Sjögren's syndrome, which are very rarely complicated in APS-2.
|
31133546 |
2019 |
Polyglandular Type I Autoimmune Syndrome
|
0.050 |
Biomarker
|
disease |
BEFREE |
Results The cumulative risk (CR) of developing AAD was higher in APS-1 patients (94.2%) compared to patients with APS-2/APS-4 (38.7%).
|
30608902 |
2019 |
Diabetes Mellitus, Insulin-Dependent
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Dividing the APS collective into those with Addison's disease (APS type II) and those without Addison's disease but including type 1 diabetes and AITD (APS type III) demonstrated DR3-DQ2/DRB1*04:01-DQ8 as a susceptibility genotype in APS III (Pc<.001), whereas the DR3-DQ2/DRB1*04:04-DQ8 genotype correlated with APS II (Pc<.001).
|
24187405 |
2014 |