Variant: rs113994139 

    present in Gene: STAT3
    present in Chromosome: 17
    Position on Chromosome: 42322474
    Alleles of this Variant: C/T

rs113994139 in STAT3 gene and HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 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 17881745 2007 STAT3 mutations in the hyper-IgE syndrome.

PMID 18706697 2008 Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.

rs113994139 in STAT3 gene and Job Syndrome PMID 21792878 2011 SH2-domain mutations in STAT3 in hyper-IgE syndrome patients result in impairment of IL-10 function.

PMID 20159255 2010 Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.

PMID 20032313 2010 Uncovering an IL-10-dependent NF-kappaB recruitment to the IL-1ra promoter that is impaired in STAT3 functionally defective patients.

PMID 29077208 2018 Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.

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 17881745 2007 STAT3 mutations in the hyper-IgE syndrome.

PMID 18978467 2008 Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3.

PMID 27980540 2016 Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.

rs113994139 in STAT3 gene and STAT3 Gain of Function PMID 26384563 2015 The STAT3 HIES mutation is a gain-of-function mutation that activates genes via AGG-element carrying promoters.

PMID 17881745 2007 STAT3 mutations in the hyper-IgE syndrome.

PMID 18706697 2008 Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.

PMID 21792878 2011 SH2-domain mutations in STAT3 in hyper-IgE syndrome patients result in impairment of IL-10 function.

PMID 27799162 2016 Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome.