What is MBL Disease ?

Mannose-binding lectin protein (MBL) deficiency is a complement component deficiency that alters the function of the body's immune system.
This condition usually causes frequent and severe infections in infants and young children.
MBL is a calcium-dependent serum protein that plays a role in the innate immune response by binding to carbohydrates on the surface of a wide range of pathogens (viruses, bacteria, fungi, protozoa )
where it can activate the complement system or act directly as an opsonin




How might mannose-binding lectin protein (MBL) deficiency be treated?

Currently, there are no specific therapies available for mannose-binding lectin protein deficiency. Fresh frozen plasma may be used in emergencies to replace complement components. Routine vaccinations may be recommended (e.g., meningococcal vaccine, pneumococcal vaccine). Because a certain gene has been found to cause this condition, gene therapy may be a viable treatment in the future Currently, there are no specific therapies available for mannose-binding lectin protein deficiency. Fresh frozen plasma may be used in emergencies to replace complement components. Routine vaccinations may be recommended (e.g., meningococcal vaccine, pneumococcal vaccine). Because a certain gene has been found to cause this condition, gene therapy may be a viable treatment in the future

OUTLINE

MBL pathway involved in host defense and possibly other functions

MBL deficiency alone not clearly associated with infection risk

deficiency most clearly associated with increased infection risk in immunosuppressed/co-existing immunodeficient patients

deficiency may predispose to infections in infancy/early childhood

low MBL may be susceptibility risk factor for other diseases