Genetic Variation in IgG as a Mechanism for Immune Deficiency and Exacerbations in AATD
The goal of this study is to learn whether patients who have a genetic mutation in the genes that cause alpha 1 antitrypsin deficiency also have genetic variation in nearby genes that can increase risk for reduced immune function and respiratory infections. To investigate this hypothesis, we will compare immune responses to the 20-valent pneumococcal conjugate vaccine (PCV20, Pfizer) between participants who have one abnormal copy of the SERPINA1 gene and either no COPD exacerbations, vs those with 2 or more COPD exacerbations in the past year.
• Adults who are heterozygous for a SERPINA1 Z allele
• Have either had no COPD exacerbations or 2 or more exacerbations in the previous year
• Has not received a pneumococcal conjugate vaccine within the past 5 years, or has only received the pneumococcal polysaccharide vaccine in the past