Job Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant (AD) HIES involves a mutation in signal transducer and activator of transcription 3 (STAT3) that leads to an impaired T<sub>H</sub>17 response.
|
29093656 |
2017 |
Job Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Reduced Immunoglobulin (Ig) G Response to Staphylococcus aureus in STAT3 Hyper-IgE Syndrome.
|
28203787 |
2017 |
Job Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Life-Threatening Pneumopathy and <i>U urealyticum</i> in a STAT3-Deficient Hyper-IgE Syndrome Patient.
|
28562253 |
2017 |
Job Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Gastrointestinal Manifestations of STAT3-Deficient Hyper-IgE Syndrome.
|
28803389 |
2017 |
Job Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Job's (hyper IgE) syndrome or inflammatory bowel disease (IBD) have now established a clear-cut role for the IL-10/STAT3 axis in immune tolerance; further understanding of these processes could lead to novel therapeutic approaches for autoimmune diseases.
|
28631311 |
2017 |
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 |
GeneticVariation
|
disease |
BEFREE |
Thus, most AD-HIES STAT3 mutations are destabilizing; agents that modulate chaperone protein function improve STAT3 stability and activity in T cells and may provide a specific treatment.
|
27799162 |
2016 |
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have demonstrated previously that patients and mice with signal transducer and activator of transcription 3 (STAT3) mutations (autosomal dominant hyper-IgE syndrome [AD-HIES]) are partially protected from anaphylaxis.
|
26948077 |
2016 |
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 |
Job Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although mutations in signal transducer and activator of transcription 3 (STAT3) have been associated with HIES, the exact nature of the relationship is unknown.
|
26293184 |
2016 |
Job Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Here, we assess the clinical and immunologic phenotype of DOCK8- and STAT3-HIES patients including the cell activation, proliferation, and cytokine release after stimulation.
|
26592211 |
2016 |
Job Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.
|
27980540 |
2016 |
Job Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
TH17 Cells in STAT3 Related Hyper-IgE Syndrome.
|
27226025 |
2016 |
Job Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Clinical phenotypes of Hyper IgE syndrome patients with and without STAT3 mutation were analysed and correlated with absolute eosinophil count, serum IgE levels and TH17 cell numbers in 19 patients with clinically suspected HIES and compared with healthy controls (n = 20).
|
27226025 |
2016 |
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 |
Job Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Support vector machines were used to compare clinical data from 35 patients with DOCK8 deficiency with those from 10 patients with AR-HIES without a DOCK8 mutation and 64 patients with signal transducer and activator of transcription 3 (STAT3) mutations.
|
25724123 |
2015 |
Job Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our study demonstrated that the skin barrier functions of STAT3-HIES patients are not damaged and they differ significantly from the altered skin barrier functions of AD patients.
|
26453584 |
2015 |
Job Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Yet, more research is required to fully elucidate the specific infection susceptibilities and lung complications, particularly in STAT3-deficient HIES.
|
25469836 |
2015 |
Job Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Heterozgyous, germline, loss-of-function mutations in STAT3 lead to the primary immune deficiency Hyper-IgE syndrome.
|
26280891 |
2015 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations in signal transducer and activator of transcription 3 (STAT3) gene cause AD-HIES.
|
24452316 |
2014 |