Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.630 CausalMutation disease CLINVAR STAT3-Mediated Transcriptional Regulation of Osteopontin in STAT3 Loss-of-Function Related Hyper IgE Syndrome. 29868029 2018
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.630 CausalMutation disease CLINVAR Novel Mutation in SH2 Domain of STAT3 (p.M660T) in Hyper-IgE Syndrome with Sterno-Clavicular and Paravertebral Abscesses. 28315006 2017
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.630 CausalMutation disease CLINVAR Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome. 27799162 2016
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.630 GeneticVariation disease UNIPROT Functional characterization of two new STAT3 mutations associated with hyper-IgE syndrome in a Mexican cohort. 26293184 2016
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.630 Biomarker disease GENOMICS_ENGLAND Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. 25359994 2015
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.630 CausalMutation disease CLINVAR The STAT3 HIES mutation is a gain-of-function mutation that activates genes via AGG-element carrying promoters. 26384563 2015
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.630 CausalMutation disease CLINVAR Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. 25359994 2015
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.630 Biomarker disease GENOMICS_ENGLAND Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. 25038750 2014
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.630 CausalMutation disease CLINVAR Variable clinical expressivity of STAT3 mutation in hyperimmunoglobulin E syndrome: genetic and clinical studies of six patients. 24452316 2014
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.630 CausalMutation disease CLINVAR Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. 25038750 2014
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.630 GeneticVariation disease CLINVAR Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome. 23584561 2013
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.630 CausalMutation disease CLINVAR STAT3 mutations correlated with hyper-IgE syndrome lead to blockage of IL-6/STAT3 signalling pathway. 22581330 2012
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.630 GeneticVariation disease BEFREE Autosomal dominant hyper-IgE syndrome (AD-HIES) or Job's syndrome is a primary immunodeficiency with a wide array of clinical features caused by dominant negative mutations in STAT3. 22268731 2012
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.630 GeneticVariation disease CLINVAR Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. 22751495 2012
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.630 GeneticVariation disease CLINVAR Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation. 22030463 2012
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.630 GeneticVariation disease UNIPROT Signal transducer and activator of transcription 3 mutation with invasive eosinophilic disease. 23342295 2012
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.630 CausalMutation disease CLINVAR SH2-domain mutations in STAT3 in hyper-IgE syndrome patients result in impairment of IL-10 function. 21792878 2011
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.630 CausalMutation disease CLINVAR Clinical, immunological and genetic features in Taiwanese patients with the phenotype of hyper-immunoglobulin E recurrent infection syndromes (HIES). 21324546 2011
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.630 Biomarker disease GENOMICS_ENGLAND Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. 20159255 2010
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.630 CausalMutation disease CLINVAR Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. 20816194 2010
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.630 GeneticVariation disease BEFREE Mutations in STAT3 cause autosomal dominant HIES (Job's syndrome), which is unique in its diversity of connective tissue, skeletal, and vascular abnormalities. 21178271 2010
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.630 GeneticVariation disease BEFREE Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases. 20093388 2010
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.630 GeneticVariation disease CLINVAR Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome. 19577286 2009
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.630 CausalMutation disease CLINVAR Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups. 18706697 2008
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.630 GeneticVariation disease 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