Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Pediatrics

Introduction: Mannose-binding lectin (MBL) is a component of innate immunity and is particularly important in neonates, in whom adaptive immunity has not yet completely developed. MBL deficiency and MBL2 gene polymorphisms are associated with an opsonization defect and have been associated with neonatal sepsis. Aim: The aim of this work was to assess the role of serum MBL level as a diagnostic value of neonatal sepsis and to assess the relation of MBL2 gene polymorphism at codon 54 (G/A) in the development of neonatal sepsis. Patients and Methods: A case-control study was conducted with 100 preterm neonates classified into two groups: the septic group included 50 neonates and the non-septic control group included 50 neonates. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis was used to genotype MBL2 gene exon 1 (codon 54 (G/A), rs1800450) SNPs. Enzyme-linked immunosorbent assay (ELISA) was used to measure MBL serum concentrations. Results: Serum MBL was significantly lower in septic neonates than the controls (P<0.0001).The heteromutant (GA) genotype of codon 54 was significantly higher in septic neonates than controls (P=0.033). However, the homomutant (AA) genotype of codon 54 was higher in septic neonates than controls but the difference did not reach statistical significance (P=0.242). The abnormal A allele was significantly higher in septic neonates than controls (P=0.0025)

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