Mannose-binding lectin 2 gene polymorphism and lung damage in primary ciliary dyskinesia

Pediatr Pulmonol. 2015 Feb;50(2):179-86. doi: 10.1002/ppul.23026. Epub 2014 Apr 19.


Background: Mannose-binding lectin (MBL) plays an important role in innate immunity and has been reported to be associated with the age-related decline in lung function in cystic fibrosis.

Hypothesis: MBL polymorphisms are associated with lung function decline in Primary Ciliary Dyskinesia (PCD).

Methods: We performed sputum microbiology, spirometry pre- and post-administration of salbutamol, ciliary motion analysis, ultrastructural assessment of cilia, ciliogenesis in culture, and chest high resolution computed tomography in children with a clinical history of respiratory tract infections and/or presence of bronchiectasis suggestive of PCD or secondary ciliary dyskinesia (SCD). All subjects were evaluated for single nucleotide polymorphisms in the gene encoding MBL-2.

Results: The diagnosis of PCD was established in 45 subjects, while in the remaining 53 the diagnosis was SCD. A significant bronchodilator response was observed only in PCD associated with the MBL2-3 genotype, which is known to be associated with low/undetectable MBL serum levels. Also, bronchiectasis severity was significantly greater in subjects with MBL2-3 in both PCD and SCD. No other association was found between MBL genotypes and clinical findings.

Conclusions: MBL plays a relatively minor role as a disease modifier in PCD. A similar finding in SCD supports the likely significance of this result.

Keywords: bronchiectasis; genetic polymorphisms; innate immunity; lung function; primary ciliary dyskinesia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Bronchiectasis / diagnostic imaging
  • Bronchiectasis / etiology*
  • Bronchodilator Agents / therapeutic use
  • Female
  • Genotype
  • Humans
  • Kartagener Syndrome / complications
  • Kartagener Syndrome / drug therapy
  • Kartagener Syndrome / genetics*
  • Male
  • Mannose-Binding Lectin / genetics*
  • Polymorphism, Single Nucleotide*
  • Radiography
  • Severity of Illness Index


  • Bronchodilator Agents
  • MBL2 protein, human
  • Mannose-Binding Lectin