Our study investigated alpha 1 antitrypsin deficiency (AATD) diagnosis in a family originated from central Tunisia and showing a familial history of asthma. Biochemical and genetic diagnosis for AATD was performed according to current diagnostic standards. AAT level quantification in affected individuals showed plasma AAT levels consistent with intermediate AATD (ranged from 0.91 to 1.04 g/L). ...

ALPHA-I-antitrypsin deficiency associated with n chronic obstructive airway disease was recognized in 1963 by Laurell and Ericksson. I In 1969, . Sharp' described the first cases of alpha-l-antitrypsin-deficiency disease in children with cirrhosis. Since then, this ·inborn error has been recognized as one of the more common factors in cirrhosis of infancy and childhood,] including "neonatal hep...

Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 820 Goals, Organization of the Project, and Timeline . . . . . 820 Summary of Main Recommendations Regarding Diagnosis and Management by the Alpha-1 Antitrypsin Deficiency Task Force . . . . . . . . . . . . . 820 Clinical Recognition of AAT Deficiency . . . . . . . . . . 820 Genetic Testing for AAT Deficiency . ....

in this study, in order to facilitate and accelerate the production of eukaryotic protein alpha 1-antitrypsin (aat) with correct post-translational modifications, a protein production system based on the transduction of cho and cos-7 cells using lentiviral vectors was developed. human aat cdna was cloned into a replication-defective lentiviral vector. the transgene aat-jred chimer was transferr...