|
CANDIDIASIS, FAMILIAL, 7
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1.
|
29702748 |
2019 |
|
CANDIDIASIS, FAMILIAL, 7
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation.
|
28258222 |
2017 |
|
CANDIDIASIS, FAMILIAL, 7
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis.
|
28597685 |
2017 |
|
CANDIDIASIS, FAMILIAL, 7
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation.
|
28258222 |
2017 |
|
CANDIDIASIS, FAMILIAL, 7
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.
|
26242301 |
2016 |
|
CANDIDIASIS, FAMILIAL, 7
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.
|
26604104 |
2016 |
|
CANDIDIASIS, FAMILIAL, 7
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.
|
26604104 |
2016 |
|
CANDIDIASIS, FAMILIAL, 7
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature.
|
26743090 |
2016 |
|
CANDIDIASIS, FAMILIAL, 7
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
|
27114460 |
2016 |
|
CANDIDIASIS, FAMILIAL, 7
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis.
|
26494717 |
2015 |
|
CANDIDIASIS, FAMILIAL, 7
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Orf Infection in a Patient with Stat1 Gain-of-Function.
|
25367169 |
2015 |
|
CANDIDIASIS, FAMILIAL, 7
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis.
|
26514428 |
2015 |
|
CANDIDIASIS, FAMILIAL, 7
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Orf Infection in a Patient with Stat1 Gain-of-Function.
|
25367169 |
2015 |
|
CANDIDIASIS, FAMILIAL, 7
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC).
|
26255980 |
2015 |
|
CANDIDIASIS, FAMILIAL, 7
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody.
|
25288569 |
2014 |
|
CANDIDIASIS, FAMILIAL, 7
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.
|
24343863 |
2014 |
|
CANDIDIASIS, FAMILIAL, 7
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.
|
23709754 |
2013 |
|
CANDIDIASIS, FAMILIAL, 7
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.
|
23709754 |
2013 |
|
CANDIDIASIS, FAMILIAL, 7
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.
|
23534974 |
2013 |
|
CANDIDIASIS, FAMILIAL, 7
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.
|
23541320 |
2013 |
|
CANDIDIASIS, FAMILIAL, 7
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.
|
23541320 |
2013 |
|
CANDIDIASIS, FAMILIAL, 7
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism.
|
22847544 |
2012 |
|
CANDIDIASIS, FAMILIAL, 7
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.
|
22730530 |
2012 |
|
CANDIDIASIS, FAMILIAL, 7
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.
|
21714643 |
2011 |
|
CANDIDIASIS, FAMILIAL, 7
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis.
|
22195034 |
2011 |