|
Mannose-Binding Protein Deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
MBL deficiency is associated with mutations in the promoter region and in exon 1 of the MBL2 gene.
|
20504205 |
2009 |
|
Mannose-Binding Protein Deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We used the Nigerian cohort from our recently published study, which included 163 Schistosoma haematobium-infected individuals and 183 matched healthy subjects, and investigated whether MBL deficiency and MBL2 polymorphisms are associated with schistosomiasis.
|
23448728 |
2013 |
|
Mannose-Binding Protein Deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The aim of our study was to determine whether genetically determined MBL deficiency is associated with susceptibility to juvenile rheumatoid arthritis (JRA) and whether MBL2 genotypes are associated with JRA severity.
|
18334024 |
2008 |
|
Mannose-Binding Protein Deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Among all patients with RLPL, 26.7% had MBL2 genotypes associated with MBL deficiency compared with 12.5% in controls [odds ratio (OR) 2.55; 95% confidence interval (CI) 1.17-5.52; P < 0.02].
|
18927129 |
2009 |
|
Mannose-Binding Protein Deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
After adjusting for potential confounders, MBL deficiency (<0.5 µg/ml) was found less frequently in cases than controls (26 vs. 41%, OR 0.4, 95% confidence interval (CI) 0.20-0.95, p=0.04) as were low producing MBL genotypes (11 vs. 23%, OR 0.2, 95% CI 0.08-0.75, p=0.01), whereas NOD2 polymorphisms were similarly distributed.
|
24086711 |
2013 |
|
Mannose-Binding Protein Deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our data suggest a possible influence of MBL deficiency in SLE European-derived although we did not observe any involvement of MBL2 variants in SLE clinical progression.
|
22206649 |
2012 |
|
Mannose-Binding Protein Deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A substantial proportion of all human populations studied to date have MBL deficiency due to MBL2 polymorphisms, which potentially increases susceptibility to infectious disease.
|
20375630 |
2010 |
|
Mannose-Binding Protein Deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genetic sequencing in 77 consecutive patients with IMN identified four patients with MBL2 promoter and coding region variations associated with MBL deficiency and the same complement pattern in immune deposits as the index patient.
|
27153925 |
2016 |
|
Mannose-Binding Protein Deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our study revealed an unexpected function of MBL in drug metabolism, thus providing new insight into the drug-induced liver injury in patients with MBL deficiency.
|
30706943 |
2019 |
|
Mannose-Binding Protein Deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
MBL replacement therapy to help patients with MBL deficiency has undergone phase I clinical trials.
|
18653905 |
2008 |
|
Mannose-Binding Protein Deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
In a cohort of children with cancer, we investigated (i) how to determine MBL deficiency and (ii) whether MBL is a prognostic factor for disease severity.
|
21488869 |
2011 |
|
Mannose-Binding Protein Deficiency
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Immunoglobulin replacement therapy reduced the rate of infectious complications in PID patients; however, these reductions were more apparent in patients with normal MBL levels than patients with MBL deficiency.
|
29119939 |
2018 |
|
Mannose-Binding Protein Deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
In conclusion, MBL deficiency and MBL excess may both have deleterious effects on IgAN progression, which suggests that MBL contributes to IgAN pathogenesis through multiple mechanisms.
|
28698271 |
2017 |
|
Mannose-Binding Protein Deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
We propose that MBL may be exploited as a new therapeutic approach in the treatment of chemical-induced sterile liver injury in patients with MBL deficiency.
|
30351498 |
2019 |
|
Mannose-Binding Protein Deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The results suggest that MBL deficiency and the presence of MBL2 gene polymorphisms that lead to MBL deficiency are risk factors for the occurrence of miscarriage in patients with RA.
|
28898115 |
2017 |
|
Mannose-Binding Protein Deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The frequency of MBL2 gene variants responsible for MBL deficiency (LXPA/O and O/O) is significantly higher in CD patients compared with controls or children with UC.
|
21702710 |
2011 |
|
Mannose-Binding Protein Deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
MBL deficiency is usually caused by mutations in exon 1 of the MBL structural gene (MBL2).
|
27624657 |
2017 |
|
Mannose-Binding Protein Deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
Furthermore, infants born to Group A mothers with MBL deficiency (n = 13, MBL ≤100 ng/mL) had significantly lower birthweights, compared to those born to Group A women with normal MBL serum concentrations (P < .0001).
|
29758096 |
2018 |
|
Mannose-Binding Protein Deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, cardiac patients with genotypes causing MBL deficiency presented less heart damage (P = 0.003, OR = 0.23), compared with cardiac patients having the XA haplotype causing low MBL levels, but fully capable of activating complement (P = 0.005, OR = 7.07).
|
26745156 |
2016 |
|
Mannose-Binding Protein Deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
MBL deficiency has been linked to a more severe course of several infectious diseases and humans with detectable antibodies against B. burgdorferi are significantly more often MBL deficient compared to humans without antibodies against B. burgdorferi.
|
30723261 |
2019 |
|
Mannose-Binding Protein Deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
Prevalence of plasma MBL deficiency (less than 100 μg/L) and MBL2 deficient genetic variants (A/O and O/O genotypes) was 21% (42 out of 197) and 39% (74 out of 190), respectively.
|
26348711 |
2015 |
|
Mannose-Binding Protein Deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
MBL deficiency is associated with mutations in the promoter region and in exon 1 of the MBL2 gene.
|
18494378 |
2007 |
|
Mannose-Binding Protein Deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mannan-binding lectin (MBL) is a central molecule of the innate immune system and MBL deficiency is known to predispose to infection.
|
16277709 |
2005 |
|
Mannose-Binding Protein Deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
Interestingly, absence or extremely low concentration of serum MBL (MBL deficiency) seems to be a risk factor for occurrence of autoimmune diseases, in particular systemic lupus erythematosus.
|
16081027 |
2005 |
|
Mannose-Binding Protein Deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We calculated and compared the proportions of plasma MBL deficiency, MBL2 structural variant alleles B (codon 54A>G), C (codon 57A>G), and D (codon 52T>C) as well as MBL2 promoter variants -550(H/L), -221(X/Y) and +4(P/Q) between HIV-1 and schistosoma co-infection and control groups using Chi Square test.
|
25830474 |
2015 |