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

Area of Science:

• Pulmonology
• Genetics
• Internal Medicine

Background:

• Bronchiectasis is a chronic inflammatory lung disease with numerous causes, commonly linked to infections.
• Alpha-1 antitrypsin (AAT) deficiency is a rare genetic cause, characterized by reduced levels of the AAT protein, which protects lungs from inflammation.
• Commonly identified AAT deficiency mutations associated with bronchiectasis include PI*S and PI*Z.

Purpose of the Study:

• To report a case of bronchiectasis attributed to a rare variant of alpha-1 antitrypsin (AAT) deficiency.
• To highlight the Pi*M Palermo mutation as a potential cause of AAT deficiency-related bronchiectasis.
• To discuss this case within the existing scientific literature on AAT deficiency and lung disease.

Main Methods:

• Advanced clinical workup was performed for a patient diagnosed with bronchiectasis.
• Genetic analysis was conducted to identify the specific mutation associated with alpha-1 antitrypsin (AAT) deficiency.
• Literature review was performed to contextualize the findings.

Main Results:

• A diagnosis of bronchiectasis secondary to alpha-1 antitrypsin (AAT) deficiency was established.
• The rare Pi*M Palermo mutation in AAT deficiency was identified in the patient.
• This finding expands the known spectrum of AAT deficiency mutations causing bronchiectasis.

Conclusions:

• The Pi*M Palermo mutation represents a novel genetic cause of alpha-1 antitrypsin (AAT) deficiency-related bronchiectasis.
• Genetic screening for AAT deficiency should be considered in patients with unexplained bronchiectasis.
• Further research is warranted to understand the prevalence and clinical significance of rare AAT deficiency mutations.