|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |