0000000000114933

AUTHOR

Agnieszka Szala

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H-ficolin (ficolin-3) concentrations and FCN3 gene polymorphism in neonates

2011

Serum H-ficolin (ficolin-3) concentrations (n=613) and FCN3 genotypes (n=529) from a large group of neonates are presented. Both pre-term deliveries and low birthweight (independently of gestational age) were significantly associated with low H-ficolin concentrations but not with heterozygosity for the FCN3 1637delC frameshift mutation. The presence of the variant allele, however, apparently influenced the protein level. No association of FCN3 gene heterozygosity or relative functional H-ficolin insufficiency (determined as serum level ≤8.6 μg/ml) with perinatal infections was found. One premature newborn, with confirmed infection caused by Streptococcus agalactiae, was H-ficolin-deficient …

MaleHeterozygotemedicine.medical_specialtyGenotypeImmunologyGestational AgeBiologymedicine.disease_causeMannose-Binding LectinStreptococcus agalactiaeFrameshift mutationLoss of heterozygosityPolymorphism (computer science)LectinsStreptococcal InfectionsInternal medicineGenotypemedicineHumansImmunology and AllergyFrameshift MutationAllelesGlycoproteinsMannan-binding lectinPolymorphism GeneticHomozygoteInfant NewbornHematologyInfant Low Birth WeightEndocrinologyStreptococcus agalactiaeMannose-Binding Protein-Associated Serine ProteasesImmunologyPremature BirthFemaleGene polymorphismFicolinImmunobiology
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