6533b7d0fe1ef96bd125a2fd

RESEARCH PRODUCT

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

Monika Borkowska-klosMaciej CedzynskiJolanta LukasiewiczCzeslaw LugowskiCzeslaw LugowskiMateusz MichalskiJerzy SzczapaAnna St. SwierzkoDavid C. KilpatrickIwona Domzalska-popadiukAnna MaciejewskaAnna SokolowskaMisao MatsushitaAgnieszka Szala

subject

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 polymorphismFicolin

description

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 (FCN3 variant homozygote, no detectable protein). We present what is only the fourth case report of total H-ficolin deficiency in the world literature. This neonate was however previously found to be mannan-binding lectin (MBL) as well as MBL-associated serine protease-2 (MASP-2) deficient and also had low serum L-ficolin.

yearjournalcountryeditionlanguage
2011-08-22Immunobiology
https://doi.org/10.1016/j.imbio.2011.12.004