|
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 |
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 |
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 |
Ten patients were detected to have mutations in DOCK8 gene and autosomal recessive HIES (AR-HIES); and four patients were found with STAT3 mutation and autosomal dominant HIES (AD-HIES).
|
30279075 |
2019 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This article focuses on loss of function STAT3 mutations causing autosomal-dominant hyper-IgE syndrome and dedicator of cytokinesis 8 deficiency, with discussion of other more recently described diseases.
|
30466772 |
2019 |
|
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 |
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 |
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 |
BEFREE |
This study was undertaken to functionally characterize neutrophils in STAT3-deficient HIES patients and to analyze whether the patients` eosinophilia affects the neutrophil phenotype in S. aureus infection.
|
30315710 |
2018 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients with defects in the Th17/IL-17 axis, such as patients harboring loss-of-function STAT3 mutations (autosomal-dominant hyper IgE syndrome; AD-HIES) present with recurrent oral fungal infections.
|
30185668 |
2018 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in the signal transducer and activator of transcription 3 gene (<i>stat3</i>) result in autosomal dominant hyper-IgE syndrome (AD-HIES), a condition in which patients have recurrent debilitating infections, including frequent pneumococcal and staphylococcal pneumonias.
|
29463618 |
2018 |
|
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
STAT2 deficiency has been described in 5 family members and is characterized by selective susceptibility to viral infections, whereas STAT3 loss-of-function (LOF) mutations are causative of the autosomal-dominant hyper-IgE syndrome (HIES), a condition that is characterized by cutaneous and respiratory infections in association with mucocutaneous candidiasis, eczema, skeletal and connective tissue abnormalities, eosinophilia, and high levels IgE.
|
27803128 |
2017 |
|
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 |
Among them, 17 (2.96%) were confirmed as STAT3 mutant AD-HIES.
|
28197791 |
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 |
|
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 |
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 |