|
Atypical Hemolytic Uremic Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
"Supercontrols" are more informative than general population because they share at least one risk factor (FHR1 deficiency) with aHUS patients.
|
31118930 |
2019 |
|
Atypical Hemolytic Uremic Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A retrospective genetic analysis in our aHUS cohort (<i>n</i>=513) using multiple ligation probe amplification uncovered nine unrelated patients carrying a genetic abnormality in the complement factor H related 1 gene (<i>CFHR1</i>) that originates by recurrent gene conversion events between the <i>CFH</i> and <i>CFHR1</i> genes.
|
28993505 |
2018 |
|
Atypical Hemolytic Uremic Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We have previously shown that haplotype <i>CFH(H3)-CFHR3*B-CFHR1*B</i> associates with aHUS and reduced FH levels.
|
29740447 |
2018 |
|
Atypical Hemolytic Uremic Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our data suggest a complex matrix of interactions between FHR1-FHR3 deletion, immunomodulation and anti-FH autoantibodies in the aetiopathogenesis of aHUS.
|
29485195 |
2018 |
|
Atypical Hemolytic Uremic Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis showed large heterozygous deletion encompassing the entire CFHR1 and CFHR3, a finding previously associated with patients presenting atypical hemolytic-uremic syndrome (aHUS).
|
28905254 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
We observed a similar extent of autoantibody binding to the aHUS-specific epitope aa1177-1191 on FH and aa276-290 on CFHR1, despite seven of our patients being deficient for CFHR1.
|
28424685 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
<i>CFHR1</i> deficiency was significantly associated with an increased risk of aHUS (odds ratio (OR) = 3.61, 95% confidence interval (95% CI), 1.96, 6.63, <i>p</i> < 0.001), while no association was demonstrated in individuals with only <i>CFHR1/R3</i> deficiency (OR = 1.32, 95% CI, 0.50, 3.50, <i>p</i> = 0.56).
|
27929404 |
2016 |
|
Atypical Hemolytic Uremic Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Cumulatively, our data suggest that association of CFHR1 deficiency with autoimmune aHUS could be due to the structural difference between CFHR1 and the autoantigenic CFH epitope, suggesting a novel explanation for CFHR1 deficiency in the pathogenesis of autoimmune aHUS.
|
25659429 |
2015 |
|
Atypical Hemolytic Uremic Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel atypical hemolytic uremic syndrome-associated hybrid CFHR1/CFH gene encoding a fusion protein that antagonizes factor H-dependent complement regulation.
|
24904082 |
2015 |
|
Atypical Hemolytic Uremic Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
No homozygous deletions of the CFHR1 and CFHR3 genes, which are frequently associated with the anti-FH Ab in aHUS patients, were found in the GP patients.
|
25917093 |
2015 |
|
Atypical Hemolytic Uremic Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The CFH-CFHR3-CFHR1 aHUS-risk haplotype seems to be the same as was previously associated with protection against meningococcal infections, suggesting that the genetic variability in this region is limited to a few extended haplotypes, each with opposite effects in various human diseases.
|
26163426 |
2015 |
|
Atypical Hemolytic Uremic Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Eculizumab is a safe and effective therapy for preventing TMA recurrence and provides long-term graft function in aHUS with the CFH/CFHR1 hybrid gene.
|
23982707 |
2014 |
|
Atypical Hemolytic Uremic Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Genetic abnormalities in the complement system, proteins including CFH, CFI, CFB, C3, CFHR1/3 and MCP (CD46) lead to uncontrolled complement activation in aHUS.
|
24005975 |
2013 |
|
Atypical Hemolytic Uremic Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Homozygous deletion in CFHR1 was detected in 32% of the patients with aHUS tested, compared with 2.5% of controls (P<0.001).
|
23243267 |
2013 |
|
Atypical Hemolytic Uremic Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The following tests were performed in all six patients: serum C3 and C4 levels, ADAMTS13 activity, CFH levels and anti-CFH autoantibodies and genetic screening for CFH, MCP, CFI, C3 and CFHR1-3 mutations and risk haplotypes associated with aHUS.
|
23787552 |
2013 |
|
Atypical Hemolytic Uremic Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations in complement factor H (CFH), factor I (CFI), factor B (CFB), thrombomodulin (THBD), C3 and membrane cofactor protein (MCP), and autoantibodies against factor H (αFH) with or without a homozygous deletion in CFH-related protein 1 and 3 (∆CFHR1/3) predispose development of atypical hemolytic uremic syndrome (aHUS).
|
22410797 |
2012 |
|
Atypical Hemolytic Uremic Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These results suggest distinct contributions of factor H and CFHR1 polymorphisms to aHUS in Tunisian and Caucasian populations.
|
22136554 |
2012 |
|
Atypical Hemolytic Uremic Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Autoantibodies to complement inhibitor factor H (FH), particularly in association with deletions of the gene coding for FH-related protein 1 (CFHR1), are associated with aHUS.
|
22894814 |
2012 |
|
Atypical Hemolytic Uremic Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
The hybrid CFH/CFHR1 protein has an altered C3b/C3d binding, is incapable to protect cells from complement attack and is directly implicated in aHUS pathogenesis.
|
22494769 |
2012 |
|
Atypical Hemolytic Uremic Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
The case of a 12-year-old with a hybrid CFH/CFHL1 gene and atypical hemolytic uremic syndrome (aHUS) that had previously developed native kidney and then renal allograft loss is reported.
|
21617085 |
2011 |
|
Atypical Hemolytic Uremic Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
The autoimmune form of atypical hemolytic uremic syndrome (HUS) is characterized by circulating autoantibodies against the complement regulator factor H, and is often associated with deficiency of the factor H-related proteins CFHR1 and CFHR3.
|
21677636 |
2011 |
|
Atypical Hemolytic Uremic Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In this report, we describe successful deceased donor renal transplantation in a case of CFH-autoantibody associated aHUS with combined CFHR1 and 3 deficiency in addition to the CFH sequence variant, (cG2850T, pGln950His).
|
19951285 |
2010 |
|
Atypical Hemolytic Uremic Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Screening for CFH-Ab and the CFHR1/CFHR3 deficiency should be included in the diagnostic tests for patients with aHUS.
|
19531976 |
2009 |
|
Atypical Hemolytic Uremic Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
We also report the characterization of a novel CFHR1 polymorphism, resulting from a gene conversion event between CFH and CFHR1, which strongly associates with aHUS.
|
19745068 |
2009 |
|
Atypical Hemolytic Uremic Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The CFHR1 deletion was not significantly more frequent in the cohort of aHUS patients when patients with anti-FH IgG or CFI mutation were excluded.
|
19435718 |
2009 |