Variant: rs387906759 

    present in Gene: STAT1
    present in Chromosome: 2
    Position on Chromosome: 190995205
    Alleles of this Variant: G/A

rs387906759 in STAT1 gene and CANDIDIASIS, FAMILIAL, 7 PMID 21727188 2011 Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

PMID 23709754 2013 New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

PMID 25288569 2014 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.

PMID 26255980 2015 Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC).

PMID 23541320 2013 Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.

PMID 24343863 2014 Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.

PMID 26604104 2016 The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.

PMID 26494717 2015 A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis.

PMID 21714643 2011 STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

PMID 26514428 2015 A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis.

rs387906759 in STAT1 gene and Candidiasis, Chronic Mucocutaneous PMID 26494717 2015 A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis.

PMID 21714643 2011 STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

PMID 23541320 2013 Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.

PMID 26255980 2015 Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC).

PMID 24343863 2014 Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.

PMID 26604104 2016 The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.

PMID 21727188 2011 Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

PMID 28427548 2017 Autosomal dominant gain of function STAT1 mutation and severe bronchiectasis.

PMID 28161409 2017 Gain-of-function STAT1 mutations are associated with intracranial aneurysms.

rs387906759 in STAT1 gene and IMMUNODEFICIENCY 31A PMID 24343863 2014 Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.

PMID 23709754 2013 New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

PMID 26604104 2016 The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.

PMID 21714643 2011 STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

PMID 26255980 2015 Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC).

PMID 26494717 2015 A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis.

PMID 23541320 2013 Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.

rs387906759 in STAT1 gene and IMMUNODEFICIENCY 31B PMID 26494717 2015 A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis.

PMID 26604104 2016 The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.

PMID 23709754 2013 New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

PMID 26255980 2015 Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC).

PMID 23541320 2013 Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.

PMID 24343863 2014 Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.

PMID 21714643 2011 STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.