|
STAT3 Gain of Function
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
STAT3-Mediated Transcriptional Regulation of Osteopontin in STAT3 Loss-of-Function Related Hyper IgE Syndrome.
|
29868029 |
2018 |
|
STAT3 Gain of Function
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Novel Mutation in SH2 Domain of STAT3 (p.M660T) in Hyper-IgE Syndrome with Sterno-Clavicular and Paravertebral Abscesses.
|
28315006 |
2017 |
|
STAT3 Gain of Function
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome.
|
27799162 |
2016 |
|
STAT3 Gain of Function
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.
|
25359994 |
2015 |
|
STAT3 Gain of Function
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
The STAT3 HIES mutation is a gain-of-function mutation that activates genes via AGG-element carrying promoters.
|
26384563 |
2015 |
|
STAT3 Gain of Function
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Variable clinical expressivity of STAT3 mutation in hyperimmunoglobulin E syndrome: genetic and clinical studies of six patients.
|
24452316 |
2014 |
|
STAT3 Gain of Function
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
|
25038750 |
2014 |
|
STAT3 Gain of Function
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome.
|
23584561 |
2013 |
|
STAT3 Gain of Function
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey.
|
22751495 |
2012 |
|
STAT3 Gain of Function
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation.
|
22030463 |
2012 |
|
STAT3 Gain of Function
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
STAT3 mutations correlated with hyper-IgE syndrome lead to blockage of IL-6/STAT3 signalling pathway.
|
22581330 |
2012 |
|
STAT3 Gain of Function
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
SH2-domain mutations in STAT3 in hyper-IgE syndrome patients result in impairment of IL-10 function.
|
21792878 |
2011 |
|
STAT3 Gain of Function
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Clinical, immunological and genetic features in Taiwanese patients with the phenotype of hyper-immunoglobulin E recurrent infection syndromes (HIES).
|
21324546 |
2011 |
|
STAT3 Gain of Function
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis.
|
20816194 |
2010 |
|
STAT3 Gain of Function
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome.
|
19577286 |
2009 |
|
STAT3 Gain of Function
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome.
|
18602572 |
2008 |
|
STAT3 Gain of Function
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.
|
18706697 |
2008 |
|
STAT3 Gain of Function
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
STAT3 mutation in the original patient with Job's syndrome.
|
17942886 |
2007 |
|
STAT3 Gain of Function
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.
|
17676033 |
2007 |
|
STAT3 Gain of Function
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
STAT3 mutations in the hyper-IgE syndrome.
|
17881745 |
2007 |