<i>ABCA3</i> Surfactant‐Related Gene Variant Associated Interstitial Lung Disease in Adults: A Case Series and Review of the Literature

Surfactant-related gene (SRG) variants are a rare but increasingly recognised cause of interstitial lung disease (ILD) in adults. Lung disease due to pathogenic variants in the adenosine triphosphate (ATP) binding cassette subfamily A member 3 (<i>ABCA3</i>) gene has been extensively described among infants and children but is rarely described in an adult population. The rarity and heterogeneity of lung disease due to <i>ABCA3</i> variants raise significant challenges in recognition, diagnosis and management. In this case series we present three unique adult cases of ILD secondary to compound heterozygous <i>ABCA3</i> variants, review the literature to provide an overview of this disease in an adult population and highlight the role for early genetic testing in young adults presenting with unusual ILD.