Pi*M Palermo Mutation in Bronchiectasis due to Alpha-1 Antitrypsin Deficiency: A Rare Genetic Cause

Abstract

Bronchiectasis, defined as the permanent dilation of the bronchial wall, is a chronic inflammatory disease with nearly thirty known causes. The most common cause is recurrent and inadequately treated lower respiratory tract infections. Among the rarer causes is alpha-1 antitrypsin (AAT) deficiency, an anti-protease and anti-inflammatory protein deficiency. To date, approximately 500 variants of AAT deficiency have been identified, with the PI*S and PI*Z mutations being the most commonly associated with bronchiectasis. Here, we presenta case diagnosed with bronchiectasis secondary to AAT deficiency during an advanced clinical workup, in which the rare Pi*M Palermo mutation was identified. This case is discussed in the context of the existing literature.