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 binding protein gene predispose to childhood infection.


METHODS
Clinical details and genotype of mannose binding protein determined in consecutive children attending a paediatric department.


METHODS
Inner city hospital paediatric service in London.


METHODS
617 children attending hospital between October 1993 and August 1995.


METHODS
Infection as the cause for attendance or admission in relation to mutations in the mannose binding protein gene.


RESULTS
The prevalence of mutations in the mannose binding protein gene in children with infection (146/345) was about twice that in children without infection (64/272) (P < 0.0001). Increased susceptibility to infection was found in both heterozygotic and homozygotic children. 13 out of 17 children homozygotic for variant alleles presented with strikingly severe infections, including 6 with septicaemia.


CONCLUSIONS
The findings suggest that 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.
Summerfield
J A
JA
Imperial College School of Medicine at St., Mary's, London.
Sumiya
M
M
Levin
M
M
Turner
M W
MW
D000293:Adolescent; D000367:Age Factors; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004198:Disease Susceptibility; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006760:Hospitalization; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007239:Infections / Q000235:genetics*; D008297:Male; D008358:Mannose; D037241:Mannose-Binding Lectins; D009154:Mutation; D012307:Risk Factors
D002352:Carrier Proteins; D037241:Mannose-Binding Lectins; D008358:Mannose