H-ficolin (ficolin-3) concentrations and FCN3 gene polymorphism in neonates.
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.
Laboratory of Immunobiology of Infections, Institute of Medical Biology, Polish Academy of Sciences, Lodowa 106, 93-232 Lodz, Poland.
Mateusz
M
Michalski
Agnieszka
A
Szala
Anna
A
St Swierzko
Jolanta
J
Lukasiewicz
Anna
A
Maciejewska
David C
DC
Kilpatrick
Misao
M
Matsushita
Iwona
I
Domzalska-Popadiuk
Monika
M
Borkowska-Klos
Anna
A
Sokolowska
Jerzy
J
Szczapa
Czeslaw
C
Lugowski
Maciej
M
Cedzynski
D000483:Alleles; D005260:Female; D016368:Frameshift Mutation; D005838:Genotype; D005865:Gestational Age; D006023:Glycoproteins / Q000172:deficiency / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn; D037102:Lectins / Q000172:deficiency / Q000235:genetics*; D008297:Male; D037601:Mannose-Binding Lectin / Q000172:deficiency / Q000235:genetics; D050606:Mannose-Binding Protein-Associated Serine Proteases / Q000172:deficiency / Q000235:genetics; D011110:Polymorphism, Genetic; D047928:Premature Birth / Q000235:genetics* / Q000276:immunology / Q000382:microbiology; D013290:Streptococcal Infections / Q000235:genetics* / Q000276:immunology / Q000382:microbiology; D013292:Streptococcus agalactiae / Q000276:immunology
C109662:FCN3 protein, human; D006023:Glycoproteins; D037102:Lectins; D037601:Mannose-Binding Lectin; C105296:MASP2 protein, human; D050606:Mannose-Binding Protein-Associated Serine Proteases