Association of variant alleles of mannose binding lectin with severity of pulmonary disease in cystic fibrosis: cohort study
BMJ 1999; 319 doi: https://doi.org/10.1136/bmj.319.7218.1166 (Published 30 October 1999) Cite this as: BMJ 1999;319:1166
- M Gabolde, paediatriciana,
- M Guilloud-Bataille, research assistantb,
- J Feingold, director of epidemiology unitb,
- C Besmond, senior research fellow (besmond@infobiogen.fr)a
- a Hôpital Robert Debré, Institut National de la Santé et de la Recherche Medicale U458, F-75019 Paris, France
- b Unité de Recherche d'Epidémiologie Génétique, Université Paris 7, Institut National de la Santé et de la Recherche Medicale U155, F-75251 Paris Cedex 05, France
- Correspondence to: C Besmond
Prognosis of cystic fibrosis is conditioned by the severity of pulmonary damage, which is related to infectious complications. The group of partial ∂F508 homozygous patients with cystic fibrosis shows a substantial variability in clinical expression of the severity of lung disease, which could be explained by the influence of modulating genes1 that are probably related to the efficiency of host immune factors in fighting against infection in patients' lungs.
Mannose binding lectin, a protein of the innate immune system, is involved in opsonisation and phagocytosis of micro-organisms. The mannose binding lectin gene shows three major allelic variants that are responsible for a decrease of the protein plasma concentration, an opsonic defect, and a common immunodeficiency.2
We investigated the possible modulating role of mannose binding lectin because studies have shown (a) that homozygosity or compound heterozygosity for mannose binding lectin variant alleles predisposes to recurrent infections including lung infections and (b) that Staphyloccus …