Allotypes of α1‐antitrypsin in patients with cystic fibrosis, homozygous and heterozygous for deltaF508
- 1 July 1994
- journal article
- research article
- Published by Wiley in Pediatric Pulmonology
- Vol. 18 (1) , 3-7
- https://doi.org/10.1002/ppul.1950180104
Abstract
In cystic fibrosis (CF) neutrophil released serine proteinase activity may facilitate Pseudomonas aeruginosa lung colonization, leading to chronic infection. Since such activity is mostly controlled by α1-antitrypsin (α1-AT), we postulated that patients with CF carrying deficient α1-AT variants might be at higher risk for P. aeruginosa acquisition and might reveal other phenomena, specific for serine proteinase activity. In 215 Danish patients with CF, homozygous (80%) or heterozygous (20%) for the major CF mutation deltaF508, α1-AT variants were determined. Carriage of deficient α-AT variants was correlated to an earlier onset of P. aeruginosa lung infection (P < 0.001), higher total IgG (P < 0.001), and P. aeruginosa-specific serum antibodies (P < 0.0001). The two groups did not differ in lung function, probably due to intensive antimicrobial treatment. Pediatr Pulmonol. 1994; 18:3–7. © 1994 Wiley-Liss. Inc.Keywords
This publication has 23 references indexed in Scilit:
- Genotype analysis of adult cystic fibrosis patientsHuman Molecular Genetics, 1993
- Cystic fibrosis: Beyond the gene to therapyThe Journal of Pediatrics, 1992
- Reliable phenotyping of alpha-1-antitrypsin by hybrid isoelectric focusing in an ultranarrow immobilized pH gradientElectrophoresis, 1992
- Severity of cystic fibrosis in patients homozygous and heterozygous for ΔF508 mutationThe Lancet, 1991
- Linked marker haplotypes and the $Delta;F508 mutation in adults with mild pulmonary disease and cystic fibrosisThe Lancet, 1990
- Alpha 1-antitrypsin deficiency, emphysema, and liver disease. Genetic basis and strategies for therapy.Journal of Clinical Investigation, 1990
- Complete sequence of the cDNA for human .alpha.1-antitrypsin and the gene for the S variantBiochemistry, 1984
- Exogenous protease promotes specific antibody forming cell response in vitroCellular Immunology, 1980
- Hypogammaglobulinemia in Patients with Cystic FibrosisNew England Journal of Medicine, 1980
- The Electrophoretic α;1-Globulin Pattern of Serum in α;1-Antitrypsin DeficiencyScandinavian Journal of Clinical and Laboratory Investigation, 1963