MBL deficiency or mannose-binding lectin deficiency is an illness that has an impact on immunity. Low levels of mannose-binding lectin, an immune system protein, are present in the blood of those who have this illness. It's unclear if this deficiency increases the risk of recurrent infections in those who are affected.[1]
Signs and symptoms
Specific infection susceptibility has been linked to low MBL levels.[2] This is especially true when it comes to chronic illnesses like cystic fibrosis, chemotherapy-induced neutropenia, and weakened immunity, which are all present in the neonatal period.[3] Moreover, septic shock and death have been connected to MBL deficiency.[4]
Causes
Mannose-binding lectin deficiency can result from mutations in the MBL2 gene.[1]
^Thiel, Steffen; Vorup-Jensen, Thomas; Stover, Cordula M.; Schwaeble, Wilhelm; Laursen, Steen B.; Poulsen, Knud; Willis, Anthony C.; Eggleton, Paul; Hansen, Søren; Holmskov, Uffe; Reid, Kenneth B. M.; Jensenius, Jens C. (1997). "A second serine protease associated with mannan-binding lectin that activates complement". Nature. 386 (6624). Springer Science and Business Media LLC: 506–510. Bibcode:1997Natur.386..506T. doi:10.1038/386506a0. ISSN0028-0836. PMID9087411.
^Hodge, Sandra; Matthews, Geoffrey; Dean, Melinda M.; Ahern, Jessica; Djukic, Michael; Hodge, Greg; Jersmann, Hubertus; Holmes, Mark; Reynolds, Paul N. (2010). "Therapeutic Role for Mannose-Binding Lectin in Cigarette Smoke–Induced Lung Inflammation?". American Journal of Respiratory Cell and Molecular Biology. 42 (2). American Thoracic Society: 235–242. doi:10.1165/rcmb.2008-0486oc. ISSN1044-1549. PMID19411612.
Chalmers, James D; McHugh, Brian J; Doherty, Catherine; Smith, Maeve P; Govan, John R; Kilpatrick, David C; Hill, Adam T (2013). "Mannose-binding lectin deficiency and disease severity in non-cystic fibrosis bronchiectasis: a prospective study". The Lancet Respiratory Medicine. 1 (3). Elsevier BV: 224–232. doi:10.1016/s2213-2600(13)70001-8. hdl:20.500.11820/dd3e4829-51fd-4bbc-82cf-66f40a88dbab. ISSN2213-2600.