Article
Mannose binding protein gene mutations associated with unusual and severe infections in adults.
Lancet (London, England) - 8 Apr 1995
Summerfield J A, Ryder S, Sumiya M, Thursz M, Gorchein A, Monteil M A, Turner M W
Abstract excerpt
A defect in opsonisation can cause a common immunodeficiency. A mutation in mannose binding protein (MBP) caused by point mutations in the MBP gene will lead to such a defect. This type of syndrome can cause recurrent infections in infants between 6 and 18 months of age but is not generally belie...
Topics
- Adolescent
- Adult
- Carrier Proteins
- Codon
- Female
- Humans
- Infections
- Male
- Mannose-Binding Lectins
- Middle Aged
- Mutation
- Pedigree
