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

• Published in: Immunobiology (1979) 2012-07, Vol.217 (7), p.730-737
• Main Authors: Michalski, Mateusz, Szala, Agnieszka, St. Swierzko, Anna, Lukasiewicz, Jolanta, Maciejewska, Anna, Kilpatrick, David C, Matsushita, Misao, Domzalska-Popadiuk, Iwona, Borkowska-Klos, Monika, Sokolowska, Anna, Szczapa, Jerzy, Lugowski, Czeslaw, Cedzynski, Maciej
• Format: Article
• Language: English
• Subjects: Advanced Basic Science; Alleles; Allergy and Immunology; Birth weight; Case reports; FCN3; Female; Ficolin-3; Frameshift Mutation; Gene polymorphism; Genotype; Gestational Age; Glycoproteins - deficiency; Glycoproteins - genetics; H-ficolin; Heterozygosity; Heterozygote; Homozygote; Homozygotes; Humans; Infant, Low Birth Weight; Infant, Newborn; Innate immunity; Lectins - deficiency; Lectins - genetics; Male; Mannose-binding lectin; Mannose-Binding Lectin - deficiency; Mannose-Binding Lectin - genetics; Mannose-Binding Protein-Associated Serine Proteases - deficiency; Mannose-Binding Protein-Associated Serine Proteases - genetics; MASP-2 protein; Neonate; Neonates; Perinatal infection; Polymorphism; Polymorphism, Genetic; Premature Birth - genetics; Premature Birth - immunology; Premature Birth - microbiology; Serine; Serum levels; Streptococcal Infections - genetics; Streptococcal Infections - immunology; Streptococcal Infections - microbiology; Streptococcus agalactiae; Streptococcus agalactiae - immunology
• ISSN: 0171-2985; 1878-3279
• DOI: 10.1016/j.imbio.2011.12.004

Abstract 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.