Disease: Job Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
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
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
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.800 GeneticVariation disease BEFREE Autosomal dominant (AD) HIES involves a mutation in signal transducer and activator of transcription 3 (STAT3) that leads to an impaired T<sub>H</sub>17 response. 29093656 2017
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.800 Biomarker disease BEFREE Reduced Immunoglobulin (Ig) G Response to Staphylococcus aureus in STAT3 Hyper-IgE Syndrome. 28203787 2017
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.800 Biomarker disease BEFREE Life-Threatening Pneumopathy and <i>U urealyticum</i> in a STAT3-Deficient Hyper-IgE Syndrome Patient. 28562253 2017
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.800 Biomarker disease BEFREE Gastrointestinal Manifestations of STAT3-Deficient Hyper-IgE Syndrome. 28803389 2017
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.800 Biomarker disease BEFREE Job's (hyper IgE) syndrome or inflammatory bowel disease (IBD) have now established a clear-cut role for the IL-10/STAT3 axis in immune tolerance; further understanding of these processes could lead to novel therapeutic approaches for autoimmune diseases. 28631311 2017
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.800 GeneticVariation disease BEFREE Although mutations in signal transducer and activator of transcription 3 (STAT3) have been associated with HIES, the exact nature of the relationship is unknown. 26293184 2016
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.800 Biomarker disease BEFREE Here, we assess the clinical and immunologic phenotype of DOCK8- and STAT3-HIES patients including the cell activation, proliferation, and cytokine release after stimulation. 26592211 2016
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.800 CausalMutation disease CLINVAR Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand. 27980540 2016
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.800 GeneticVariation disease CLINVAR TH17 Cells in STAT3 Related Hyper-IgE Syndrome. 27226025 2016
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.800 GeneticVariation disease BEFREE Clinical phenotypes of Hyper IgE syndrome patients with and without STAT3 mutation were analysed and correlated with absolute eosinophil count, serum IgE levels and TH17 cell numbers in 19 patients with clinically suspected HIES and compared with healthy controls (n = 20). 27226025 2016
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.800 GeneticVariation disease BEFREE Support vector machines were used to compare clinical data from 35 patients with DOCK8 deficiency with those from 10 patients with AR-HIES without a DOCK8 mutation and 64 patients with signal transducer and activator of transcription 3 (STAT3) mutations. 25724123 2015
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.800 Biomarker disease BEFREE Our study demonstrated that the skin barrier functions of STAT3-HIES patients are not damaged and they differ significantly from the altered skin barrier functions of AD patients. 26453584 2015
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.800 Biomarker disease BEFREE Yet, more research is required to fully elucidate the specific infection susceptibilities and lung complications, particularly in STAT3-deficient HIES. 25469836 2015
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.800 GeneticVariation disease BEFREE Heterozgyous, germline, loss-of-function mutations in STAT3 lead to the primary immune deficiency Hyper-IgE syndrome. 26280891 2015
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.800 GeneticVariation disease BEFREE Novel STAT3 mutation causing hyper-IgE syndrome: studies of the clinical course and immunopathology. 24627079 2014