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RESEARCH PRODUCT
Human toll-like receptor 4 mutations are associated with susceptibility to invasive meningococcal disease in infancy.
Adam FinnClaudius U. MeyerP. HabermehlHeinz J. SchmittMarkus KnufAlexandra RussoFred ZeppJoerg FaberChristine MannhalterWerner ZenzBernhard U. ZabelChristina GemmerCraig Murdochsubject
Microbiology (medical)MaleMutation MissenseMeningococcal diseasemedicine.disease_causePolymerase Chain ReactionGene FrequencyMedicineHumansGenetic Predisposition to DiseaseRisk factorReceptorChildAllele frequencyAllelesToll-like receptorMutationbusiness.industryAge FactorsInfantDNASequence Analysis DNAmedicine.diseaseEuropeMeningococcal InfectionsToll-Like Receptor 4Infectious DiseasesReal-time polymerase chain reactionAmino Acid SubstitutionChild PreschoolPediatrics Perinatology and Child HealthImmunologyTLR4Femalebusinessdescription
Toll-like receptor 4 (TLR4) is required for efficient recognition of bacterial infections. We investigated an association between 2 TLR4 mutations (Asp 299 Gly and Thr 399 Ile) and meningococcal disease in 197 patients and 214 healthy controls by allele-specific real time polymerase chain reaction and direct sequencing. Although the allele frequency was not higher in the overall patient population, a significantly higher frequency in the 40 patients younger than 12 months of age (P = 0.007) was observed. We conclude that TLR4 mutations represent a risk factor for meningococcal disease in this age group.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2006-01-06 | The Pediatric infectious disease journal |