|
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 |
GeneticVariation
|
disease |
BEFREE |
Whole-exome sequencing analysis using her peripheral blood revealed a heterozygous mutation in the STAT3 gene, which is related to autosomal dominant hyper-immunoglobulin E syndrome (AD-HIES).
|
31829468 |
2020 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Job syndrome or autosomal dominant hyper IgE syndrome because of heterozygous loss-of-function mutations with dominant negative effect in signal transducer and activator of transcription-3 is the prototype of these disorders.
|
30264496 |
2019 |
|
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 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The majority of autosomal dominant HIES (AD HIGE) is due to hypomorphic mutations in the signal transducer and the activator of transcription 3 (STAT3) gene.
|
30410549 |
2018 |
|
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 |
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 |
Recently it was shown that heterozygous signal transducer and activator of transcription 3 (STAT3) mutations cause autosomal-dominant HIES.
|
18602572 |
2008 |
|
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 |
Biomarker
|
disease |
BEFREE |
Successful haploidentical donor hematopoietic stem cell transplant and restoration of STAT3 function in an adolescent with autosomal dominant hyper-IgE syndrome.
|
25962528 |
2015 |
|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
This study determined mechanisms for this protection and compared this to mice with myeloid-specific STAT3-deficiency (LysMcre/STAT3(flox); gp130(757F/F) LysMcre/STAT3(flox)).
|
26848037 |
2016 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The autosomal recessive hyper-IgE syndrome (HIES) caused by dedicator of cytokinesis 8 (DOCK8) deficiency shares clinical features with autosomal dominant HIES because of signal transducer and activator of transcription 3 (STAT3) mutations, including recurrent infections and mucocutaneous candidiasis, which are suggestive of T<sub>H</sub>17 cell dysfunction.
|
27350570 |
2016 |
|
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 |
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 |
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 |