ASSOCIATION OF MUTATIONS IN MANNOSE-BINDING PROTEIN GENE WITH CHILDHOOD INFECTION IN CONSECUTIVE HOSPITAL SERIES

Objective: To determine the extent to which mutations in the mannose b inding protein gene predispose to childhood infection. Design: Clinica l details and genotype of mannose binding protein determined in consec utive children attending a paediatric department. Setting: Inner city hospital paediatric service in London. Subjects: 617 children attendin g hospital between October 1993 and August 1995. Main outcome measure: Infection as the cause for attendance or admission in relation to mut ations in the mannose binding protein gene. Results: The prevalence of mutations in the mannose binding protein gene in children with infect ion (146/345) was about twice that in children without infection (64/2 72) (P < 0.0001). Increased susceptibility to infection was found in b oth heterozygotic and homozygotic children. 13 out of 17 children homo zygotic for variant alleles presented with strikingly severe infection s, including 6 with septicaemia. Conclusions: The findings suggest tha t mutations in the mannose binding protein gene are an important risk factor for infections in children. Screening for such mutations should be included in the investigation of severe or frequent infections.