|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
Biomarker
|
disease |
MGD |
|
|
|
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant HIES (AD-HIES) is a primary immunodeficiency caused by dominant negative mutations in STAT3 clustered in the DNA binding and SH2 domains.
|
21288777 |
2011 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Autosomal-dominant hyper-IgE syndrome (AD-HIES) is a primary immunodeficiency caused by STAT3 mutations.
|
21792878 |
2011 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hyper-IgE syndrome (AD-HIES) or Job's syndrome is a primary immunodeficiency with a wide array of clinical features caused by dominant negative mutations in STAT3.
|
22268731 |
2012 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant HIES has been shown to be mainly due to STAT3 mutations and additionally results in connective tissue, skeletal, vascular and dental abnormalities.
|
23210525 |
2012 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hyper-IgE syndrome (AD-HIES) due to heterozygous STAT3 mutation is a primary immunodeficiency characterized by eczema, elevated serum IgE, recurrent infections, and connective tissue and skeletal findings.
|
23584561 |
2013 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hyper-IgE syndrome (AD-HIES) is a primary immunodeficiency mainly caused by mutations in STAT3, a signalling molecule implicated in the development of appropriate immune responses.
|
25796310 |
2016 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hyper-IgE syndrome (AD-HIES) is included among primary immunodeficiencies, and results from heterozygous mutations in the signal transduction and activator of transcription 3 (STAT3) gene.
|
27091139 |
2016 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
STAT 3 deficiency (autosomal dominant hyper immunoglobulin E syndrome (AD-HIES)) is a primary immunodeficiency disorder with multi-organ involvement caused by dominant negative signal transducer and activator of transcription gene 3 (STAT3) mutations.
|
28803389 |
2017 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hyper IgE syndrome (AD-HIES), or Job's syndrome, is a primary immune deficiency caused by dominant-negative mutations in STAT3.
|
30035749 |
2018 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
Biomarker
|
disease |
BEFREE |
STAT3 deficiency reduced tumor incidence and growth while STAT3 hyperactivation has an opposite effect; also it negatively regulates p53 gene.
|
30249899 |
2018 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
STAT3 activation also induced expression of receptor activator of nuclear factor kappa B ligand (RANKL), a cytokine essential for osteoclastogenesis, and STAT3 deficiency or pharmacological inhibition promoted significant reduction in expression of both IL-6 family cytokines and RANKL in vitro.
|
21937456 |
2011 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
Biomarker
|
disease |
BEFREE |
STAT3 mosaicism accounts for a milder phenotype and allows for further investigation into the pathogenesis of AD-HIES.
|
23623265 |
2013 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function.
|
23830147 |
2013 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
According to the Grimbacher score the patient was likely to have AD-HIES and a novel heterozygous STAT3 mutation (c.1110-3C>A), causing a splice error, was identified.
|
24627079 |
2014 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
Biomarker
|
disease |
CTD_human |
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
|
25038750 |
2014 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Among them, 17 (2.96%) were confirmed as STAT3 mutant AD-HIES.
|
28197791 |
2017 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
By contrast, CMC is one of the few key infections in patients with autosomal dominant hyper IgE syndrome (mutations in STAT3), and in rare patients with autosomal recessive predisposition to mucocutaneous and invasive fungal infections (mutation in CARD9).
|
20674321 |
2010 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
Biomarker
|
disease |
BEFREE |
Conversely, IEC-specific Stat3 deficiency enhances susceptibility to chemically induced epithelial damage and subsequent mucosal inflammation, while excessive Stat3 activation confers resistance to colitis.
|
19185844 |
2009 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.
|
17676033 |
2007 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Generation of human induced pluripotent stem cell lines (NIHTVBi011-A, NIHTVBi012-A, NIHTVBi013-A) from autosomal dominant Hyper IgE syndrome (AD-HIES) patients carrying STAT3 mutation.
|
31707214 |
2019 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we characterized the functional activity of STAT3 and its mutations in 11 Mexican patients with autosomal dominant HIES.
|
26293184 |
2016 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency presenting as two forms including autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES), which are mainly caused by mutations in STAT3 and DOCK8, respectively.
|
30732127 |
2019 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In 2007, mutations in signal transducer and activator of transcription 3 (STAT3) were determined to be the cause of autosomal-dominant HIES.
|
18978467 |
2008 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
Biomarker
|
disease |
BEFREE |
In addition, we discuss animal models of STAT3 deficiency that provide insight into the pathogenesis of HIES.
|
19190525 |
2009 |