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 |
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 |
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 |
Job Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Lung disease in STAT3 hyper-IgE syndrome requires intense therapy.
|
30793327 |
2019 |
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 |
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 |
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 |
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 |
Job Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.
|
29077208 |
2018 |
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 |
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 |