Mannose-binding lectin deficiency

Structure of mannose-binding lectin (MBL2)

Mannose-binding lectin deficiency 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.

Sources

• ŠÍPEK, Antonín. Geneticky podmíněné poruchy imunitního systému [online]. The last revision 9. 6. 2006, [cit. 14. 1. 2010]. <http://www.genetika-biologie.cz/primarni-imunodeficience>.

References

• BARTŮŇKOVÁ, Jiřina. Imunodeficience. 1. edition. Praha : Grada, 2002. 228 pp. ISBN 80-247-0244-4.