|
Autoimmune Diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Germline STAT3 gain-of-function (GOF) mutations cause multiple endocrine and haematologic autoimmune disorders, lymphoproliferation, and growth impairment.
|
28253502 |
2017 |
|
Autoimmune Diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Activating germline mutations in STAT3 were recently identified as a cause of neonatal diabetes mellitus associated with beta-cell autoimmunity.
|
28402852 |
2017 |
|
Autoimmune Diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Germinal heterozygous activating STAT3 mutations represent a novel monogenic defect associated with multi-organ autoimmune disease and, in some cases, severe growth retardation.
|
29378236 |
2018 |
|
Autoimmune Diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Activating heterozygous germline mutations in the signal transducer and activator of transcription 3 (<i>STAT3</i>) gene are associated with the rare autoimmune disorder autoimmune disease, multisystem, infantile onset (ADMIO).
|
31771449 |
2019 |
|
Autoimmune Diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The protective haplotype for MS in STAT3 is a risk allele for Crohn disease, implying that STAT3 represents a shared risk locus for at least two autoimmune diseases.
|
20159113 |
2010 |
|
Autoimmune Diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Patients with germline STAT3 GOF mutations have an increased frequency of early-onset multiorgan autoimmunity (i.e. autoimmune enteropathy, type 1 diabetes mellitus, autoimmune interstitial lung disease and autoimmune cytopenias), lymphoproliferation, short stature and, less frequently, severe recurrent infections.
|
28914637 |
2017 |
|
Autoimmune Diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Several STAT3 genetic variants have been associated to different autoimmune diseases.
|
23127549 |
2013 |
|
Autoimmune Diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Germline STAT3 gain-of-function mutations have recently been identified in patients with an early-onset autoimmunity/lymphoproliferative syndrome.
|
26574998 |
2016 |
|
Autoimmune Diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Janus kinase 2 (JAK2) and signal transducer and activator of transcription 3 (STAT3) polymorphisms have been demonstrated as a common risk factor for a number of autoimmune diseases.
|
22205606 |
2012 |
|
Autoimmune Diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Interleukin-23 receptor (IL-23R) and signal transducer and activator of transcription 3 (STAT3) polymorphisms are common risk factors for a number of T helper (Th) 17-mediated autoimmune diseases.
|
24460100 |
2014 |
|
Autoimmune Diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Recently, germline, heterozygous mutations in STAT3 that confer a gain-of-function have been discovered and result in early-onset, multi-organ autoimmunity.
|
26280891 |
2015 |
|
Autoimmune Diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
This case sheds light on the emerging role of signal transducer and activator of transcription 3 gain-of-function mutation in the pathogenesis of autoimmune diseases, and further addresses the therapeutic role of interleukin-6 blocker treatment in this syndrome.
|
28153428 |
2017 |
|
Autoimmune Diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Here, we report on 13 individuals from 10 families with lymphoproliferation and early-onset solid-organ autoimmunity associated with 9 different germline heterozygous mutations in STAT3.
|
25359994 |
2015 |
|
Autoimmune Diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Janus kinase 1 (JAK1), JAK2, and signal transducer and activator of transcription 3 (STAT3) play an important role in Th1 and Th17 differentiation and gene polymorphisms of these factors have been demonstrated to be associated with certain autoimmune diseases.
|
23611997 |
2013 |
|
Autoimmune Diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity.
|
31770611 |
2020 |
|
Autoimmune Diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
These results show STAT3 and NF-<i>κ</i>B as two important and complementary regulators of the tolerogenic behaviour of DCs, which should be considered as molecular targets in the design of DC-based suppressive immunotherapies for the treatment of autoimmune disorders.
|
31355296 |
2019 |
|
Autoimmune Diseases
|
0.400 |
Biomarker
|
group |
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 |
|
Autoimmune Diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
These findings emphasize the critical role of STAT3 in autoimmune disease and contrast with the germline inactivating STAT3 mutations that result in hyper IgE syndrome.
|
25038750 |
2014 |
|
Autoimmune Diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
The newly identified loci shared with other autoimmune diseases include candidate genes with roles in regulating T-cell function (such as RUNX3, TAGAP and STAT3).
|
23143594 |
2012 |
|
Autoimmune Diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
However, because IFN-α is thought to elicit its therapeutic effect via enhancement of an antitumor immune response mediated by lymphocytes that can be activated by IFN-α administrations, it is probable that the suppression of STAT3 in vivo relates to autoimmune disorders.
|
23052245 |
2013 |
|
Autoimmune Diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
IL-6/STAT3 pathway induced deficiency of RFX1 contributes to Th17-dependent autoimmune diseases via epigenetic regulation.
|
29422534 |
2018 |
|
Autoimmune Diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
Signal transducer and activator of transcription 3 (STAT3) has a crucial role in various autoimmune disorders including, inflammatory bowel disease (IBD).
|
30181918 |
2018 |
|
Autoimmune Diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
Nutritional control of IL-23/Th17-mediated autoimmune disease through HO-1/STAT3 activation.
|
28290522 |
2017 |
|
Autoimmune Diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
STAT3 and STAT5 Targeting for Simultaneous Management of Melanoma and Autoimmune Diseases.
|
31569642 |
2019 |
|
Autoimmune Diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
Our results broaden the spectrum of phenotypes caused by activating STAT3 mutations, highlight the role of STAT3 in the development and differentiation of multiple immune cell lineages, and strengthen the link between the STAT family of transcription factors and autoimmunity.
|
25349174 |
2015 |