ISSN: 2155-9899
Helga Bjarnadottir
Hringbraut (building 14 at Eiriksgata), 101 Reykjavik
Iceland
Research Article
Mannan-Binding Lectin (MBL) Deficient Individuals with the O/O Genotype are Highly Susceptible to Gastrointestinal Diseases
Author(s): Helga Bjarnadottir, Valgerdur Thorsteinsdottir, Gudmundur Haukur Jorgensen, Margret Arnardottir and Bjorn Runar LudvikssonHelga Bjarnadottir, Valgerdur Thorsteinsdottir, Gudmundur Haukur Jorgensen, Margret Arnardottir and Bjorn Runar Ludviksson
Background: Mannan-binding lectin (MBL) and ficolin-3 are initiators of the lectin pathway that is important for clearance of pathogens and apoptotic cells through complement activation. MBL deficiency (MBLD) has been associated with infectious complications but its clinical relevance in adults is unclear. Definition of MBLD is commonly linked to its low serum levels, but is mainly due to functional polymorphisms in the MBL2 gene leading to dysfunctional MBL forms. Homozygotes for dysfunctional alleles (O/O) have the lowest serum levels (<50 ng/ml) with a defect in opsonisation and complement activation. Ficolin-3 deficiency due to homozygosity of a frameshift mutation (1637delC) in the FCN3 gene was recently shown to be associated with pyogenic infections mainly in the lungs.
Objective: The aim of the st.. View More»
DOI:
10.4172/2155-9899.1000182