Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
0.800 GeneticVariation disease BEFREE Whole-exome sequencing analysis using her peripheral blood revealed a heterozygous mutation in the STAT3 gene, which is related to autosomal dominant hyper-immunoglobulin E syndrome (AD-HIES). 31829468 2020
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
0.800 GeneticVariation disease BEFREE Job syndrome or autosomal dominant hyper IgE syndrome because of heterozygous loss-of-function mutations with dominant negative effect in signal transducer and activator of transcription-3 is the prototype of these disorders. 30264496 2019
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
0.800 GeneticVariation disease BEFREE Generation of human induced pluripotent stem cell lines (NIHTVBi011-A, NIHTVBi012-A, NIHTVBi013-A) from autosomal dominant Hyper IgE syndrome (AD-HIES) patients carrying STAT3 mutation. 31707214 2019
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
0.800 GeneticVariation disease BEFREE Ten patients were detected to have mutations in DOCK8 gene and autosomal recessive HIES (AR-HIES); and four patients were found with STAT3 mutation and autosomal dominant HIES (AD-HIES). 30279075 2019
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
0.800 GeneticVariation disease BEFREE This article focuses on loss of function STAT3 mutations causing autosomal-dominant hyper-IgE syndrome and dedicator of cytokinesis 8 deficiency, with discussion of other more recently described diseases. 30466772 2019
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
0.800 GeneticVariation disease BEFREE Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency presenting as two forms including autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES), which are mainly caused by mutations in STAT3 and DOCK8, respectively. 30732127 2019
CUI: C3887645
Disease: Job Syndrome
Job Syndrome
0.800 GeneticVariation disease BEFREE Specific molecular study of STAT3 and DOCK8 mutations in patients with HIES clinical phenotype could help the physician to definitively characterize the disease. 30801830 2019
CUI: C3887645
Disease: Job Syndrome
Job Syndrome
0.800 Biomarker disease BEFREE STAT3-deficient hyper-IgE syndrome is characterized by elevated serum IgE levels, recurrent infections and eczema, and characteristic skeletal anomalies. 30309848 2019
CUI: C3887645
Disease: Job Syndrome
Job Syndrome
0.800 Biomarker disease BEFREE Lung disease in STAT3 hyper-IgE syndrome requires intense therapy. 30793327 2019
CUI: C3887645
Disease: Job Syndrome
Job Syndrome
0.800 GeneticVariation disease BEFREE Hyper IgE syndrome associated with novel and recurrent STAT3 mutations: Two case reports. 30732127 2019
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
0.800 GeneticVariation disease BEFREE Autosomal dominant hyper IgE syndrome (AD-HIES), or Job's syndrome, is a primary immune deficiency caused by dominant-negative mutations in STAT3. 30035749 2018
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
0.800 Biomarker disease BEFREE STAT3 deficiency reduced tumor incidence and growth while STAT3 hyperactivation has an opposite effect; also it negatively regulates p53 gene. 30249899 2018
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
0.800 GeneticVariation disease BEFREE The majority of autosomal dominant HIES (AD HIGE) is due to hypomorphic mutations in the signal transducer and the activator of transcription 3 (STAT3) gene. 30410549 2018
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
0.800 Biomarker disease BEFREE This study was undertaken to functionally characterize neutrophils in STAT3-deficient HIES patients and to analyze whether the patients` eosinophilia affects the neutrophil phenotype in S. aureus infection. 30315710 2018
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
0.800 GeneticVariation disease BEFREE Patients with defects in the Th17/IL-17 axis, such as patients harboring loss-of-function STAT3 mutations (autosomal-dominant hyper IgE syndrome; AD-HIES) present with recurrent oral fungal infections. 30185668 2018
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
0.800 GeneticVariation disease BEFREE Loss-of-function mutations in the signal transducer and activator of transcription 3 gene (<i>stat3</i>) result in autosomal dominant hyper-IgE syndrome (AD-HIES), a condition in which patients have recurrent debilitating infections, including frequent pneumococcal and staphylococcal pneumonias. 29463618 2018
CUI: C3887645
Disease: Job Syndrome
Job Syndrome
0.800 GeneticVariation disease BEFREE The complete loss of STAT3 is not compatible with life and even partial loss of function mutations lead to debilitating pathologies like hyper IgE syndrome. 29873274 2018
CUI: C3887645
Disease: Job Syndrome
Job Syndrome
0.800 Biomarker disease BEFREE Regulation of OPN gene through IL-6-mediated STAT3 activation and its significant dysregulation in STAT3 LOF HIES subjects could make OPN a plausible candidate involved in the pathogenesis of dental/facial manifestations in HIES. 29868029 2018
CUI: C3887645
Disease: Job Syndrome
Job Syndrome
0.800 Biomarker disease BEFREE Studies of HIES have been further complicated by the lack of a high serum IgE phenotype in all mouse models of the disease other than two Stat3 mutant strains. 30094507 2018
CUI: C3887645
Disease: Job Syndrome
Job Syndrome
0.800 CausalMutation disease CLINVAR Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. 29077208 2018
CUI: C3887645
Disease: Job Syndrome
Job Syndrome
0.800 GeneticVariation disease BEFREE Both autosomal dominant (AD) HIES due to STAT3 mutations and autosomal recessive (AR) HIES due to PGM3, SPINK5, DOCK8 and TKY2 mutations have been reported. 30112673 2018
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
0.800 GeneticVariation disease BEFREE STAT2 deficiency has been described in 5 family members and is characterized by selective susceptibility to viral infections, whereas STAT3 loss-of-function (LOF) mutations are causative of the autosomal-dominant hyper-IgE syndrome (HIES), a condition that is characterized by cutaneous and respiratory infections in association with mucocutaneous candidiasis, eczema, skeletal and connective tissue abnormalities, eosinophilia, and high levels IgE. 27803128 2017
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
0.800 GeneticVariation disease BEFREE STAT 3 deficiency (autosomal dominant hyper immunoglobulin E syndrome (AD-HIES)) is a primary immunodeficiency disorder with multi-organ involvement caused by dominant negative signal transducer and activator of transcription gene 3 (STAT3) mutations. 28803389 2017
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
0.800 GeneticVariation disease BEFREE Among them, 17 (2.96%) were confirmed as STAT3 mutant AD-HIES. 28197791 2017
CUI: C3887645
Disease: Job Syndrome
Job Syndrome
0.800 Biomarker disease BEFREE Signal transducer and activator of transcription 3 (Stat3), a conserved controller of cell proliferation, survival and regeneration, is associated with human scoliosis, cancer and Hyper IgE Syndrome. 28222105 2017