rs113994139
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
Job Syndrome
T
0.700
CausalMutation
CLINVAR
Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.
29077208
2018
rs113994139
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
Job Syndrome
T
0.700
CausalMutation
CLINVAR
Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.
27980540
2016
rs113994139
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
Job Syndrome
T
0.700
CausalMutation
CLINVAR
SH2-domain mutations in STAT3 in hyper-IgE syndrome patients result in impairment of IL-10 function.
21792878
2011
rs113994139
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
Job Syndrome
T
0.700
CausalMutation
CLINVAR
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.
20159255
2010
rs113994139
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
Job Syndrome
T
0.700
CausalMutation
CLINVAR
Uncovering an IL-10-dependent NF-kappaB recruitment to the IL-1ra promoter that is impaired in STAT3 functionally defective patients.
20032313
2010
rs113994139
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
Job Syndrome
T
0.700
CausalMutation
CLINVAR
Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.
18706697
2008
rs113994139
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
Job Syndrome
T
0.700
CausalMutation
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
rs113994139
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
Job Syndrome
T
0.700
CausalMutation
CLINVAR
Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3.
18978467
2008
rs113994139
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
Job Syndrome
T
0.700
CausalMutation
CLINVAR
STAT3 mutations in the hyper-IgE syndrome.
17881745
2007