Rapid and progressive pulmonary fibrosis in 2 families with DNA repair deficiencies of undetermined etiology

Timothy J. Vece, Marc G. Schecter, Richard A. Gatti, Rashmi Tunuguntla, Christine Kim Garcia, Claire Langston, Megan K. Dishop, Robert H. Moore, Leland L. Fan

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

Known genetic causes of pediatric interstitial lung disease include disorders of surfactant metabolism, telomerase, and DNA repair. We report 4 children from 2 families with rapidly progressive and fatal pulmonary fibrosis. A novel DNA repair defect unrelated to the ataxia-telangiectasia mutated gene was found in 1 child from each family.

Original languageEnglish (US)
Pages (from-to)700-702.e3
JournalJournal of Pediatrics
Volume160
Issue number4
DOIs
StatePublished - Apr 2012

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Vece, T. J., Schecter, M. G., Gatti, R. A., Tunuguntla, R., Garcia, C. K., Langston, C., Dishop, M. K., Moore, R. H., & Fan, L. L. (2012). Rapid and progressive pulmonary fibrosis in 2 families with DNA repair deficiencies of undetermined etiology. Journal of Pediatrics, 160(4), 700-702.e3. https://doi.org/10.1016/j.jpeds.2011.12.001