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Updated: Feb 10, 2026

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
Published on: June 16, 2020
Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation
Teresa Salerno1, Donatella Peca2, Laura Menchini3
1Pneumology Unit - Department of Pediatric Medicine, Bambino Gesù Children's Hospital, IRCCS, Piazza S Onofrio 4, 00165, Rome, Italy. teresa.salerno@opbg.net.
Background:
Monoallelic mutations of the Surfactant Protein C gene (SFTPC) are associated with Interstitial Lung Disease in children. I73T is the most common mutation, accounting for 30 % of all cases reported.
Case Presentation:
We describe three patients carrying the same I73T SPC mutation with very different phenotypes, clinical course (ranging from mild respiratory symptoms to death for respiratory failure) and outcome.
Conclusions:
The disease mechanisms associated with SP-C mutations suggest that the combination of individual genetic background and environmental factors contribute largely to the wide variability of clinical expression. Infants, children and adults with ILD of unknown etiology should be investigated for SP-C genetic abnormalities.
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