Mannose binding lectin protein is a member of collectin family and important for innate immunity. MBL-deficiency has been related to a number of diseases. MBL deficiency mainly results from three mutations in exon 1 of the gene and is associated with both increased susceptibility to infections and autoimmune disease.
Alternative names
Mannan-binding protein deficiency
Classification
- Complement regulatory proteins
- Mannose-binding lectin deficiency
Inheritance
Autosomal recessive/Autosomal dominant
OMIM
*154545 Lectin, mannose-binding, soluble, 2; MBL2
Cross references
Phenotypically related immunodeficiencies
IDR factfile for C5 deficiency
IDR factfile for C6 deficiency
IDR factfile for C7 deficiency
IDR factfile for C8 alfa-polypeptide deficiency
Incidence
Incidence is not known.