Mannose-binding lectin deficiency



Mannose-binding lectin deficiency (OMIM: 154545) is an autosomal recessive inherited disease caused by a mutation in the gene encoding mannose-binding lectin (MBL2, localization 10q11.2-q21). Mannose-binding lectin is a natural component of serum and participates in the activation of the complement system by the so-called lectin pathway, when it binds to sugar components on the surface of various pathogens, such as bacteria, viruses and fungi. In the case of a deficiency of this protein, there is an increased susceptibility to infections, including greater susceptibility to autoimmune and allergic diseases. However, the resulting immunodeficiency is not very severe.