Journal of Clinical and Cellular Immunology
Open Access

Gudmundur Haukur Jorgensen

Publications

• 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

  Abstract PDF

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