|
Candidiasis, Chronic Mucocutaneous
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous STAT1 gain-of-function (GOF) mutations result in a combined form of immunodeficiency which is the most common genetic cause of chronic mucocutaneous candidiasis (CMC).
|
31637766 |
2020 |
|
Candidiasis, Chronic Mucocutaneous
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Conversely, the few known activating mutations of STAT1 allow predisposition to chronic mucocutaneous candidiasis disease, and occur in patients with combined immunodeficiency and defective Th1 and Th17 responses.
|
31448411 |
2019 |
|
Candidiasis, Chronic Mucocutaneous
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Human signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations present with a broad range of manifestations ranging from chronic mucocutaneous candidiasis and autoimmunity to combined immunodeficiency (CID).
|
30543054 |
2019 |
|
Candidiasis, Chronic Mucocutaneous
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1.
|
29702748 |
2019 |
|
Candidiasis, Chronic Mucocutaneous
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Heterozygous gain-of-function (GOF) mutations in the cytokine-regulated transcription factor STAT1 (signal transducer and activator of transcription 1) lead to chronic mucocutaneous candidiasis (CMC).
|
31336247 |
2019 |
|
Candidiasis, Chronic Mucocutaneous
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Signal transducer and activator of transcription 1 (STAT-1) gain-of-function (GOF) mutations cause chronic mucocutaneous candidiasis (CMC), a disease associated with Candida albicans and Staphylococcus aureus infection.
|
30069986 |
2018 |
|
Candidiasis, Chronic Mucocutaneous
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Signal transducer and activator of transcription 1 gain-of-function (STAT1 GOF) mutations are the most common cause of chronic mucocutaneous candidiasis (CMC).
|
29934865 |
2018 |
|
Candidiasis, Chronic Mucocutaneous
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
STAT1 GOF mutations were described as the major cause of chronic mucocutaneous candidiasis, while activating STAT3 mutations result in early-onset multiorgan autoimmunity and ID.
|
30407975 |
2018 |
|
Candidiasis, Chronic Mucocutaneous
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Heterozygotes for gain-of-function (GOF) alleles of the <i>STAT1</i> gene usually display autosomal dominant chronic mucocutaneous candidiasis (CMC) and a wide range of clinical features, such as bronchiectasis.
|
30187709 |
2018 |
|
Candidiasis, Chronic Mucocutaneous
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Patients with heterozygous STAT1 gain-of-function (GOF) mutations usually present with chronic mucocutaneous candidiasis (CMC) but may also experience bacterial and viral infections, autoimmune manifestations, lymphopenia, cerebral aneurysms, and increased risk to develop tumors.
|
27803128 |
2017 |
|
Candidiasis, Chronic Mucocutaneous
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous gain-of-function (GOF) mutations in the signal transducer and activator of transcription 1 (STAT1) have increasingly been identified as a genetic cause of autosomal-dominant (AD) chronic mucocutaneous candidiasis (CMC).
|
28597685 |
2017 |
|
Candidiasis, Chronic Mucocutaneous
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Autosomal dominant gain of function STAT1 mutation and severe bronchiectasis.
|
28427548 |
2017 |
|
Candidiasis, Chronic Mucocutaneous
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The three-dimensional structure of STAT1 revealed the G250 residue was located distant from a cluster of residues affected by gain-of-function mutations responsible for chronic mucocutaneous candidiasis.
|
27856304 |
2017 |
|
Candidiasis, Chronic Mucocutaneous
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Gain-of-function STAT1 mutations are associated with intracranial aneurysms.
|
28161409 |
2017 |
|
Candidiasis, Chronic Mucocutaneous
|
0.500 |
Biomarker
|
disease |
BEFREE |
We report a child with a novel mutation in the linker domain of STAT1 who had life-threatening autoimmune cytopenias and chronic mucocutaneous candidiasis.
|
28139313 |
2017 |
|
Candidiasis, Chronic Mucocutaneous
|
0.500 |
GeneticVariation
|
disease |
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 |
|
Candidiasis, Chronic Mucocutaneous
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function (GOF) mutations affecting the coiled-coil domain or the DNA-binding domain of signal transducer and activator of transcription 1 (STAT1) cause chronic mucocutaneous candidiasis disease.
|
28069426 |
2017 |
|
Candidiasis, Chronic Mucocutaneous
|
0.500 |
Biomarker
|
disease |
BEFREE |
Clinical manifestations of patients with STAT1 GOF are characterized by mucocutaneous candidiasis and recurrent lower tract respiratory infections.
|
28914637 |
2017 |
|
Candidiasis, Chronic Mucocutaneous
|
0.500 |
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, Chronic Mucocutaneous
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have increasingly been identified worldwide.
|
27114460 |
2016 |
|
Candidiasis, Chronic Mucocutaneous
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Chronic mucocutaneous candidiasis: characterization of a family with STAT-1 gain-of-function and development of an ex-vivo assay for Th17 deficiency of diagnostic utility.
|
26621323 |
2016 |
|
Candidiasis, Chronic Mucocutaneous
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, gain-of-function (GOF) mutations in the gene encoding signal transducer and activator of transcription 1 (STAT1) have been associated with chronic mucocutaneous candidiasis (CMC).
|
27063510 |
2016 |
|
Candidiasis, Chronic Mucocutaneous
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Most patients with inherited chronic mucocutaneous candidiasis were found to carry STAT1 gain-of-function mutations.
|
27237547 |
2016 |
|
Candidiasis, Chronic Mucocutaneous
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.
|
26604104 |
2016 |
|
Candidiasis, Chronic Mucocutaneous
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
One patient with dominant gain-of-function (GOF) mutation in signal transducer and activator of transcription 1 (STAT1) with chronic mucocutaneous candidiasis and PML was reported previously.
|
26743090 |
2016 |