present in Gene: STAT3
present in Chromosome: 17
Position on Chromosome: 42317182
Alleles of this Variant: G/A;C
rs1064794957 in
STAT3 gene and
Multiple congenital anomalies
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 26394394 2015 54th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE). Barcelona, Spain, October 1-3, 2015: Abstracts.
PMID 28073828 2017 An Activating Mutation in STAT3 Results in Neonatal Diabetes Through Reduced Insulin Synthesis.
PMID 20159255 2010 Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.
PMID 25038750 2014 Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
PMID 26343524 2015 A novel human STAT3 mutation presents with autoimmunity involving Th17 hyperactivation.
PMID 25359994 2015 Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.
PMID 29180260 2018 A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID).
PMID 22520845 2012 Inborn errors of human JAKs and STATs.
PMID 22751495 2012 Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey.