Capillary malformation (disorder)
|
0.100 |
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 |
Capillary malformation (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations in the STAT1 gene (STAT1-GOF) are the most common genetic aetiology for CMC, and mutation analysis should be considered.
|
29702748 |
2019 |
Capillary malformation (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report a case of CMC/CID in a 10-year-old boy due to a novel mutation in the small ubiquitin molecule (SUMO) consensus site at the C-terminal region of STAT1 leading to gain-of-function by impaired sumoylation.
|
31512162 |
2019 |
Capillary malformation (disorder)
|
0.100 |
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 |
Capillary malformation (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant STAT1 mutations in humans have been associated with chronic mucocutaneous candidiasis (CMC), as well as with increased susceptibility to herpesvirus infections.
|
31315996 |
2019 |
Capillary malformation (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
More recently, increasing focus has been on aspects of autoimmunity and autoinflammation playing an important part in many primary immunodeficiency diseases (PID)s, as exemplified by STAT1 gain-of-function causing CMC and autoimmune thyroiditis, as well as a recently described autoinflammatory syndrome with hypogammaglobulinemia and lymphoproliferation as a result of STAT3 gain-of-function.
|
30671054 |
2018 |
Capillary malformation (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel STAT1 GOF mutation (c.617T > C; p.L206P), detected in a child with recalcitrant CMC, was shown to be reversible in vitro with ruxolitinib.
|
29934865 |
2018 |
Capillary malformation (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we report on a patient with CMC and bronchiectasis with various types of infections who carried a pathogenic variant of the <i>STAT1</i> gene.
|
30187709 |
2018 |
Capillary malformation (disorder)
|
0.100 |
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 |
Capillary malformation (disorder)
|
0.100 |
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 |
Capillary malformation (disorder)
|
0.100 |
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 |
Capillary malformation (disorder)
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Patients with <i>STAT1</i> gain-of-function (GOF) mutations also develop CMC and autoimmunity; they exhibit increased STAT1 protein levels at baseline and STAT1 phosphorylation (pSTAT1) upon interferon (IFN)-γ stimulation relative to healthy controls.
|
28769929 |
2017 |
Capillary malformation (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Further, the statistical analysis of RNA-seq data with STAT1-deficient epithelial cells and primary T cells from a CMC patient revealed that the R274Q mutation affected gene expression levels of 66 and 76 non-overlapping RefSeq genes, respectively.
|
28258222 |
2017 |
Capillary malformation (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This report describes a family of patients with CMC with confirmed GOF-STAT1 mutation.
|
28815025 |
2017 |
Capillary malformation (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
STAT1 GOF mutations underlie AD CMC, as well as an unexpectedly wide range of other clinical features, including not only a variety of infectious and autoimmune diseases, but also cerebral aneurysms and carcinomas that confer a poor prognosis.
|
27114460 |
2016 |
Capillary malformation (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We describe a single kindred with CMC and the identification of a STAT1 GOF mutation by whole exome sequencing (WES).
|
26621323 |
2016 |
Capillary malformation (disorder)
|
0.100 |
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 |
Capillary malformation (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations within STAT1 were identified in 35 of 57 CMC patients (61%).
|
26604104 |
2016 |
Capillary malformation (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Reduced STAT3-dependent gene transcription underlies low Th-17 responses in GOF-STAT1 CMC, which can be reversed by inhibiting acetylation, offering novel targets for future therapies.
|
26255980 |
2015 |
Capillary malformation (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function STAT1 mutations have recently been associated with autosomal dominant chronic mucocutaneous candidiasis (CMC).
|
26514428 |
2015 |
Capillary malformation (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This is the first patient with severe orf in the context of a well-defined genetically identified PID: CMC and inborn error of IL-17 immunity due to a GOF STAT1 mutation.
|
25367169 |
2015 |
Capillary malformation (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
These findings describe the role of STAT-1 for the induction of trained immunity, and may contribute to the understanding of the differences in susceptibility to infection between CMC and HIES patients.
|
25880788 |
2015 |
Capillary malformation (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations in STAT1 were very recently shown to be responsible for autosomal-dominant or sporadic cases of CMC.
|
22730530 |
2012 |
Capillary malformation (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The two previously reported types of AD MSMD-causing STAT1 mutations are located in the tail segment domain (p.L706S) or in the DNA-binding domain (p.E320Q and p.Q463H), whereas the AD CMC-causing mutations are located in the coiled-coil domain.
|
22573496 |
2012 |
Capillary malformation (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
AD-CMC is known to be caused by a gain-of-function mutation of the STAT1 gene.
|
22847544 |
2012 |