×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
0.100
CausalMutation
phenotype
CLINVAR
STAT3-Mediated Transcriptional Regulation of Osteopontin in STAT3 Loss-of-Function Related Hyper IgE Syndrome.
29868029
2018
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
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
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
0.100
CausalMutation
phenotype
CLINVAR
Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome.
27799162
2016
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
0.100
CausalMutation
phenotype
CLINVAR
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.
25359994
2015
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
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
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
0.100
CausalMutation
phenotype
CLINVAR
Variable clinical expressivity of STAT3 mutation in hyperimmunoglobulin E syndrome: genetic and clinical studies of six patients.
24452316
2014
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
0.100
CausalMutation
phenotype
CLINVAR
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
25038750
2014
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
0.100
GeneticVariation
phenotype
CLINVAR
Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome.
23584561
2013
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
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
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
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
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
0.100
CausalMutation
phenotype
CLINVAR
STAT3 mutations correlated with hyper-IgE syndrome lead to blockage of IL-6/STAT3 signalling pathway.
22581330
2012
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
0.100
CausalMutation
phenotype
CLINVAR
SH2-domain mutations in STAT3 in hyper-IgE syndrome patients result in impairment of IL-10 function.
21792878
2011
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
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
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
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
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
0.100
GeneticVariation
phenotype
CLINVAR
Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome.
19577286
2009
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
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
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
0.100
CausalMutation
phenotype
CLINVAR
Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.
18706697
2008
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
0.100
CausalMutation
phenotype
CLINVAR
STAT3 mutation in the original patient with Job's syndrome.
17942886
2007
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
0.100
CausalMutation
phenotype
CLINVAR
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.
17676033
2007
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
0.100
CausalMutation
phenotype
CLINVAR
STAT3 mutations in the hyper-IgE syndrome.
17881745
2007