Alpha-1 Antitrypsin Deficiency in a Young Never Smoker With Novel Pi*Null Homozygous Mutation: a Case Report.

Abstract

Alpha-1 antitrypsin deficiency is an autosomal codominant disorder caused by SERPINA1 gene mutations. PI*Z and PI*S mutations commonly underlie this deficiency, but rarer homozygous PI*null (Q0) mutations may result in a complete loss of alpha-1 antitrypsin (AAT). Such rare mutations lead to severe AAT deficiency and early onset of lung disease. We present a case of 35-year-old female never-smoker born to consanguineous parents who developed severe panlobular emphysema and end-stage respiratory insufficiency requiring lung transplantation. Subsequent genetic testing identified her as homozygous for a novel c.82del mutation - here named Q0_Bani-Yas based on the region of the primary carrier's origin - which resulted in undetectable levels of alpha-1 antitrypsin protein.