mannose binding protein dysfunction
Last reviewed 01/2018
Mutations in the gene for the mannose binding protein (MBP) may result in defective opsonisation. This common form of immuno-deficiency causes recurrent infections in children and severe and unusual infections in adults.
MBP mutations are found in 25% of children with unexplained recurrent bacterial and fungal infections (1).
The normal form of MBP may have a role in the pathogenesis of rheumatoid arthritis.
Reference:
- Summerfield JA et al. (1995). Mannose binding protein gene mutations associated with unusual and severe infections in adults. Lancet, 345, 886-89.