|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in signal transducer and activator of transcription 3 (STAT3) gene cause AD-HIES.
|
24452316 |
2014 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
This in vitro phenotype was reproduced in mice infused with STAT3 inhibitors and mice with platelet-specific STAT3 deficiency.
|
23266857 |
2013 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Nearly every patient with autosomal-dominant hyper-IgE syndrome (AD-HIES) due to signal transducer and activator of transcription 3 (STAT3) mutations has a history of eczematous dermatitis and elevated IgE; however, clinical atopy has never been systematically studied.
|
24184145 |
2013 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We sought to obtain in vitro a population close to the TFH cells and to study the presence of this cell population among patients with autosomal dominant hyper-IgE syndrome carrying heterozygous signal transducer and activator of transcription 3 (STAT3) mutations that impair the IL-21 signaling required for B-cell differentiation.
|
23403044 |
2013 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
Biomarker
|
disease |
BEFREE |
K5-Cre.Stat3(flox/flox) mice were used to define the impact of Stat3 deficiency on Raf-induced epidermal hyperplasia.
|
23870655 |
2013 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that not all patients with HIES who had NIH scores over 40 points carry STAT3 mutations, those whose Th17 cell numbers strikingly decreased probably had AD-HIES with STAT3 mutations.
|
23659370 |
2013 |
|
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) 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 |
Mutations in STAT3 are associated with AD-HIES, whereas mutations in DOCK8, or rarely TYK2, are associated with AR-HIES.
|
21970826 |
2011 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients with autosomal-dominant hyper-IgE syndrome (AD-HIES) carry dominant-negative STAT3 mutations and are susceptible to a variety of bacterial and fungal infections.
|
22118528 |
2011 |
|
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 |
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 |
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 |
Mutations in STAT3 cause autosomal dominant HIES (Job's syndrome), which is unique in its diversity of connective tissue, skeletal, and vascular abnormalities.
|
21178271 |
2010 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases.
|
20093388 |
2010 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, it was shown that heterozygous mutations in signal transducer and activator of transcription 3 (STAT3), can cause autosomal-dominant HIES.
|
20149460 |
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 |
Biomarker
|
disease |
BEFREE |
In this article, we will review how the study of STAT3 deficiency in humans and mice has highlighted nonredundant roles of STAT3, and of specific cytokines, in diverse cellular processes such as antimicrobial immunity and protection at epithelial barriers, the generation of functional humoral immune responses, bone formation, and keratinocyte biology.
|
19109129 |
2009 |
|
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 |
|
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 |
Since STAT-3 plays a role in B cell development and differentiation, we analyzed memory B cells in 20 patients with HIES, 17 of which had STAT-3 mutations.
|
18835223 |
2008 |