Condition: IMMUNODEFICIENCY 31A


rs1085307649 in STAT1 gene and IMMUNODEFICIENCY 31A PMID 27114460 2016 Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

PMID 16934001 2006 Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.

PMID 22573496 2012 Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease.

PMID 11452125 2001 Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation.

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

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

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

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

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

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

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