Pediatric Pulmonary Genetics: Beyond Surfactant and CFTR

CNMC Ped Pulmonology 5.24.24.pdf

Learning objectives:

• Lung regeneration following acute disease is robust and mediated by a p63+ stem cell, which is identical to the dominant, clonogenic stem cell in normal adult lung.
• Chronic lung diseases are dominated by disease-specific patterns of “variant” stem cells marked by pathogenic properties.
• By way of example, COVID lungs have four p63+ stem cells, including three variants that individually drive neutrophilic inflammation, fibrosis, and mucin hypersecretion.
• These “pathogenic” variants are present (at low levels) in normal lung and even fetal lung, suggesting their intrinsic roles in mucosal immunity.