Condition: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
rs113994135 in
STAT3 gene and
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
PMID 22581330 2012 STAT3 mutations correlated with hyper-IgE syndrome lead to blockage of IL-6/STAT3 signalling pathway.
PMID 17881745 2007 STAT3 mutations in the hyper-IgE syndrome.
PMID 24452316 2014 Variable clinical expressivity of STAT3 mutation in hyperimmunoglobulin E syndrome: genetic and clinical studies of six patients.
PMID 21324546 2011 Clinical, immunological and genetic features in Taiwanese patients with the phenotype of hyper-immunoglobulin E recurrent infection syndromes (HIES).
PMID 17676033 2007 Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.
PMID 17942886 2007 STAT3 mutation in the original patient with Job's syndrome.
PMID 21792878 2011 SH2-domain mutations in STAT3 in hyper-IgE syndrome patients result in impairment of IL-10 function.
PMID 26384563 2015 The STAT3 HIES mutation is a gain-of-function mutation that activates genes via AGG-element carrying promoters.
PMID 27799162 2016 Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome.
PMID 18706697 2008 Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.
PMID 18602572 2008 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.
PMID 22030463 2012 Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation.
PMID 23342295 2012 Signal transducer and activator of transcription 3 mutation with invasive eosinophilic disease.
PMID 23584561 2013 Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome.
PMID 19577286 2009 Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome.
PMID 26293184 2016 Functional characterization of two new STAT3 mutations associated with hyper-IgE syndrome in a Mexican cohort.
PMID 22751495 2012 Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey.
PMID 25359994 2015 Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.
PMID 25038750 2014 Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
PMID 20816194 2010 Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis.
PMID 29868029 2018 STAT3-Mediated Transcriptional Regulation of Osteopontin in STAT3 Loss-of-Function Related Hyper IgE Syndrome.
PMID 28315006 2017 Novel Mutation in SH2 Domain of STAT3 (p.M660T) in Hyper-IgE Syndrome with Sterno-Clavicular and Paravertebral Abscesses.