A Rare Phenotype of Alpha-1-Antitrypsin Deficiency Owing to PI∗IS in a Newborn With Liver Disease

Alpha-1-antitrypsin (AAT) deficiency is a common genetic cause of liver disease in the pediatric population (1). AAT deficiency is caused by a mutation in the SERine Protease Inhibitor A1 (SERPINA1) gene on chromosome 14q32.1 (2), leading to the intracellular accumulation of a mutant protein and subsequent hepatocellular damage (1). We present a case of a 2-month-old male patient with jaundice diagnosed with a rare variant of AAT deficiency...