Journal of Cystic Fibrosis
Volume 4, Issue 3 , Pages 189-191 , September 2005

MBL2 polymorphisms screening in a regional Italian CF Center

  • Chiara Trevisiol

      Affiliations

    • Paediatrics Unit, Department of Reproductive and Developmental Sciences, Trieste University, Italy
    • ,
  • Michele Boniotto

      Affiliations

    • Genetic Unit, Department of Reproductive and Developmental Sciences, Trieste University, Via dell'Istria 65/1, 34137 Trieste, Italy
    • Genetics Service, Children Hospital Burlo Garofolo, Trieste, Italy
    • ,
  • Luisella Giglio

      Affiliations

    • Paediatrics Unit, Children Hospital Burlo Garofolo, Trieste, Italy
    • ,
  • Furio Poli

      Affiliations

    • Paediatrics Unit, Children Hospital Burlo Garofolo, Trieste, Italy
    • ,
  • Marcello Morgutti

      Affiliations

    • Genetics Service, Children Hospital Burlo Garofolo, Trieste, Italy
    • ,
  • Sergio Crovella

      Affiliations

    • Genetic Unit, Department of Reproductive and Developmental Sciences, Trieste University, Via dell'Istria 65/1, 34137 Trieste, Italy
    • Genetics Service, Children Hospital Burlo Garofolo, Trieste, Italy
    • Corresponding Author InformationCorresponding author. Genetic Unit, Department of Reproductive and Developmental Sciences, Trieste University, Via dell'Istria 65/1, 34137 Trieste, Italy. Tel.: +39 403785538; fax: +39 403785540.

Received 10 March 2005 ,Revised 8 April 2005 ,Accepted 8 April 2005.

References 

  1. Yarden J, Radojkovic D, De Boeck K, Macek M, Zemkova D, Vavrova V, et al. Polymorphisms in the mannose binding lectin gene affect the CF pulmonary phenotype. J Med Genet. 2004;41:629–633
  2. Gabolde M, Guilloud-Bataille M, Feingold J, Besmond C. Association of variant alleles of mannose binding lectin with severity of pulmonary disease in cystic fibrosis: cohort study. BMJ. 1999;319:1166–1167
  3. Garred P, Pressler T, Madsen HO, Frederiksen B, Svejgaard A, Hoiby N, et al. Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis. J Clin Invest. 1999;104:431–437
  4. Nuytinck L, Shapiro F. Mannose-binding lectin: laying the stepping stones from clinical research to personalized medicine. Pers Med. 2004;1:35–52
  5. Kilpatrick DC. Mannan-binding lectin and its role in innate immunity. Trans Med. 2002;12:335–351
  6. Turner MW. The role of MBL in health and disease. Mol Immunol. 2003;40:423–429
  7. Gibson LE, Cooke RE. A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis. Pediatrics. 1959;23:545–549
  8. Polgar G, Promadhat V. Pulmonary function testing in children: techniques and standards. Philadelphia: Saunders; 1971;
  9. Kulczycki LL, Kostuch M, Bellanti JA. A clinical perspective of cystic fibrosis and new genetic findings: relationship of CFTR mutations to genotype–phenotype manifestations. Am J Med Genet. 2003;116A:262–267
  10. Hladnik U, Braida L, Boniotto M, Pirulli D, Gerin F, Amoroso A, et al. Single-tube genotyping of MBL-2 polymorphisms using melting temperature analysis. Clin Exp Med. 2002;2:105–108
  11. Davies JC, Turner MW, Klein N London MBL CF Study Group. Impaired pulmonary status in CF adults with two mutated MBL-2 alleles. Eur Respir J. 2004;24:798–804
  12. Carlsson M, Sjoholm AG, Eriksson L, Thiel S, Jensenius JC, Segelmark M, et al. Deficiency of the mannan-binding lectin pathway of complement and poor outcome in CF: bacterial colonization may be decisive for a relationship. Clin Exp Immunol. 2005;139:306–331

PII: S1569-1993(05)00033-0

doi: 10.1016/j.jcf.2005.04.001

Journal of Cystic Fibrosis
Volume 4, Issue 3 , Pages 189-191 , September 2005

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