|
Mycobacterium Infections
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A heterozygous dominant-negative mutation in the coiled-coil domain of STAT1 is the cause of autosomal-dominant Mendelian susceptibility to mycobacterial diseases.
|
27856304 |
2017 |
|
Mycobacterium Infections
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Moreover, 6% of patients with chronic mucocutaneous candidiasis with a GOF STAT1 mutation have mycobacterial disease, obscuring the functional significance of the identified STAT1 mutations.
|
28011069 |
2017 |
|
Mycobacterium Infections
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations conferring Mendelian susceptibility to mycobacterial diseases have been identified in the regions of the STAT1 gene encoding the tail segment, DNA-binding domain and SH2 domain.
|
23585529 |
2013 |
|
Mycobacterium Infections
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease.
|
22573496 |
2012 |
|
Mycobacterium Infections
|
0.400 |
Biomarker
|
group |
BEFREE |
Previously described heterozygous STAT1 mutant alleles are loss-of-function and cause AD predisposition to mycobacterial disease caused by impaired STAT1-dependent cellular responses to IFN-γ.
|
21727188 |
2011 |
|
Mycobacterium Infections
|
0.400 |
Biomarker
|
group |
BEFREE |
This is the first report of a mutation in the N-terminal part of STAT1 involved in causing mycobacterial disease.
|
21057861 |
2011 |
|
Mycobacterium Infections
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations of the gene encoding the signal transducing molecule STAT1, which impairs the ability to respond to IFNgamma, and mutations of the gene encoding TYK2 (which is associated with a failure to respond to IL12), are both rare genetic defects predisposing to mycobacterial infections.
|
18326015 |
2008 |
|
Mycobacterium Infections
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Disorders of IFN-gamma production, caused by IL12B, IL12RB1, and specific NEMO mutations, or of IFN-gamma responses, caused by IFNGR1, IFNGR2, and dominant STAT1 mutations, confer predisposition to mycobacterial disease in patients resistant to most viruses.
|
19161414 |
2008 |
|
Mycobacterium Infections
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Here, we characterize three human STAT1 germline alleles from otherwise healthy patients with mycobacterial disease.
|
16934001 |
2006 |
|
Mycobacterium Infections
|
0.400 |
GeneticVariation
|
group |
BEFREE |
These primary immunodeficiencies are caused by germline mutations in seven genes: ELA2, encoding a neutrophil elastase, and GFI1, encoding a regulator of ELA2 (mutations associated with severe congenital neutropenia); CXCR4, encoding a chemokine receptor (warts, hypogammaglobulinemia, infections and myelokathexis syndrome); LCRR8, encoding a key protein for B-cell development (agammaglobulinemia); IFNGR1, encoding the ligand-binding chain of the interferon-gamma receptor; STAT1, encoding the signal transducer and activator of transcription 1 downstream from interferon-gammaR1 (Mendelian susceptibility to mycobacterial diseases); and IKBA, encoding IkappaBalpha, the inhibitor alpha of NF-kappaB (anhidrotic ectodermal dysplasia with immunodeficiency).
|
15604887 |
2005 |
|
Mycobacterium Infections
|
0.400 |
Biomarker
|
group |
BEFREE |
Human mutations in IFN-gamma receptor-1 (IFN-gammaR1), IFN-gammaR2, IL-12p40, IL-12 receptor-beta1, signal transducer and activator of transcription-1, and nuclear factor-kappaB essential modulator are analyzed in the context of genetic susceptibility to mycobacterial diseases.
|
15661020 |
2005 |
|
Mycobacterium Infections
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A heterozygous STAT1 mutation that impairs GAF but not ISGF3 activation has been found in other individuals with mycobacterial disease.
|
12590259 |
2003 |
|
Mycobacterium Infections
|
0.400 |
Biomarker
|
group |
CTD_human |
Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation.
|
11452125 |
2001 |