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Pathogenic variants in the ATP binding cassette member A3 (ABCA3) gene were first described in newborn infants with lethal respiratory failure in 2004.1 Subsequent reports have expanded the clinical spectrum associated with biallelic ABCA3 variants to include infants with the phenotype of childhood interstitial lung disease (chILD), who presented after the newborn period and had prolonged survival, even into adulthood.2–4 A genotype–phenotype correlation has emerged with biallelic null (frameshift or nonsense) ABCA3 variants predicting neonatal onset of respiratory failure and death prior to 1 year of age without lung transplantation, whereas the age of presentation and disease course associated with other ABCA3 variants (missense, splicing and in-frame insertion/deletions) are less reliably predicted.3 5 Since the original report, much of the ensuing literature has focused on identifying novel ABCA3 variants, describing histopathological and ultrastructural features of affected lung tissue, and characterising in vivo and in vitro models of gene regulation and variant-specific disease mechanisms. Robust clinical data regarding disease progression, pulmonary outcomes and survival, particularly for those presenting or surviving beyond infancy, have been scarce. In their Thorax paper, Li et al provide in-depth clinical data for 44 children with ABCA3 deficiency from the chILD EU Kids Lung Register database over a 21-year period who survived beyond the first year of life.6 This study demonstrates the power of multicentre collaboration and patient registries …
Contributors AC, LN and JW: have made a substantial contribution to the concept or design of the article and drafted the article or revised it critically for important intellectual content; and approved the version to be published.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Commissioned; externally peer reviewed.