Condition: CANDIDIASIS, FAMILIAL, 7


rs1085307649 in STAT1 gene and CANDIDIASIS, FAMILIAL, 7 PMID 27114460 2016 Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

PMID 25367169 2015 Orf Infection in a Patient with Stat1 Gain-of-Function.

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.

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

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

PMID 26242301 2016 Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.

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

PMID 22195034 2011 STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis.

PMID 22847544 2012 Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism.

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

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

PMID 28258222 2017 Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation.

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

PMID 26743090 2016 Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature.

PMID 28597685 2017 A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis.

PMID 22730530 2012 Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.