Alpha-1-antitrypsin (Pi) types in Down's syndrome |
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| Authors: | Philippe Arnaud N M Burdash G B Wilson H H Fudenberg |
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| Institution: | Department of Basic and Clinical Immunology and Microbiology, and Department of Laboratory Medicine, Medical University of South Carolina, Charleston, South Carolina, U.S.A. |
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| Abstract: | Alpha-1-antitrypsin (Pi) phenotypes have been determined in 40 patients suffering from Down's syndrome. Thirty-six of the patients were found to have a normal M phenotype, whereas two deficient phenotypes of the MS variety were observed. In addition, two M variants were noted. The significance of an M variant phenotype in some patients with Down's syndrome is not completely understood and is currently under investigation. Since the majority of the patients had a normal alpha-1-antitrypsin phenotype, the results of this study indicate that a deficiency in alpha-1-antitrypsin plays no role in the respiratory fragility of individuals with Down's syndrome. |
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