title: Mannose-binding lectin 2 gene polymorphism and lung damage in primary ciliary dyskinesia.
abstract: 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.
  
  
  OBJECTIVE
  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.
authors.affiliation: Department of Pediatrics, University Hospital of Pisa, Pisa, Italy.
authors.forename: Massimo
authors.initials: M
authors.lastname: Pifferi
authors.forename: Andrew
authors.initials: A
authors.lastname: Bush
authors.forename: Angela
authors.initials: A
authors.lastname: Michelucci
authors.forename: Maria
authors.initials: M
authors.lastname: Di Cicco
authors.forename: Martina
authors.initials: M
authors.lastname: Piras
authors.forename: Davide
authors.initials: D
authors.lastname: Caramella
authors.forename: Federica
authors.initials: F
authors.lastname: Mazzei
authors.forename: Maria
authors.initials: M
authors.lastname: Neri
authors.forename: Giovanni
authors.initials: G
authors.lastname: Pioggia
authors.forename: Gennaro
authors.initials: G
authors.lastname: Tartarisco
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Saggese
authors.forename: Paolo
authors.initials: P
authors.lastname: Simi
authors.forename: Attilio L
authors.initials: AL
authors.lastname: Boner
mesh_terms: D000293:Adolescent; D001987:Bronchiectasis / Q000000981:diagnostic imaging / Q000209:etiology*; D001993:Bronchodilator Agents / Q000627:therapeutic use; D005260:Female; D005838:Genotype; D006801:Humans; D007619:Kartagener Syndrome / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D037601:Mannose-Binding Lectin / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011859:Radiography; D012720:Severity of Illness Index
chemical_list: D001993:Bronchodilator Agents; C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin
keywords: bronchiectasis; genetic polymorphisms; innate immunity; lung function; primary ciliary dyskinesia