Capillary malformation (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genetic etiologies of chronic mucocutaneous candidiasis (CMC) disrupt human IL-17A/F-dependent immunity at mucosal surfaces, whereas those of connective tissue disorders (CTDs) often impair the TGF-β-dependent homeostasis of connective tissues.
|
31784499 |
2019 |
Capillary malformation (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
While CMC is heterogeneous, our findings suggest that we cannot use CMC data to reassure patients on the long-term safety of IL-17 antagonists beyond the safety results from clinical trials, and perhaps caution should be taken with the development of candidiasis in patients taking these medications.
|
29076381 |
2018 |
Capillary malformation (disorder)
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
CMC is associated with an impaired Th17 cell response; however, it remains unclear whether decreased serum IL-17 and IL-22 levels are related to a defect in cytokine production or to neutralizing autoantibodies resulting from mutations in the <i>AIRE</i> gene.
|
30510552 |
2018 |
Capillary malformation (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Chronic mucocutaneous candidiasis (CMC) occurs in patients with mutations in genes affecting IL-17-mediated immunity, such as <i>STAT3, AIRE, RORC, CARD9, IL12B</i>, and <i>IL12RB1</i>, or gain of function (GOF) mutations in <i>STAT1</i>.
|
30627128 |
2018 |
Capillary malformation (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
We demonstrate that cell surface staining of unstimulated whole blood for CCR6⁺ CXCR3⁻ CCR4⁺ CD161⁺ T helper cells generates results that correlate with intracellular cytokine staining for IL-17A, and is able to discriminate between patients with molecularly defined CMC and healthy controls with 100% sensitivity and specificity within the cohort tested.
|
26621323 |
2016 |
Capillary malformation (disorder)
|
0.100 |
Biomarker
|
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations affecting the STAT3/interleukin 17 (IL-17) pathway cause selective susceptibility to fungal (Candida) infections, a hallmark of chronic mucocutaneous candidiasis (CMC).
|
26255980 |
2015 |
Capillary malformation (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
During recent years, inborn errors of human IL-17 immunity have been demonstrated to underlie primary immunodeficiencies with chronic mucocutaneous candidiasis (CMC).
|
26494717 |
2015 |
Capillary malformation (disorder)
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We found persistently high levels of antibodies against IL-17A in the serum samples of one patient presenting CMC since infancy and low or undetectable anti-IL-17A antibody levels in the sera of five patients with no candidiasis or without severe candidiasis.
|
24493573 |
2014 |
Capillary malformation (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Inborn errors of human IL-17 immunity underlie CMC.
|
23026768 |
2012 |
Capillary malformation (disorder)
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Mutations in STAT1, IL12B and IL12RB1 result in CMC secondary to decreased IL-17 production through different mechanisms.
|
22838497 |
2012 |
Capillary malformation (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
In patients with CMC with hypothyroidism, T(H)17 cells demonstrated decreased proliferation and IL-17 production in response to Candida species.
|
20934207 |
2010 |