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

4 Citations (Scopus)

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)
JournalJournal of Pediatrics
Volume160
Issue number4
DOIs
StatePublished - Apr 2012

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DNA Repair-Deficiency Disorders
Pulmonary Fibrosis
DNA Repair
Ataxia Telangiectasia
Telomerase
Interstitial Lung Diseases
Surface-Active Agents
Pediatrics
Genes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Rapid and progressive pulmonary fibrosis in 2 families with DNA repair deficiencies of undetermined etiology. / Vece, Timothy J.; Schecter, Marc G.; Gatti, Richard A.; Tunuguntla, Rashmi; Garcia, Christine Kim; Langston, Claire; Dishop, Megan K.; Moore, Robert H.; Fan, Leland L.

In: Journal of Pediatrics, Vol. 160, No. 4, 04.2012.

Research output: Contribution to journalArticle

Vece, TJ, Schecter, MG, Gatti, RA, Tunuguntla, R, Garcia, CK, Langston, C, Dishop, MK, Moore, RH & Fan, LL 2012, 'Rapid and progressive pulmonary fibrosis in 2 families with DNA repair deficiencies of undetermined etiology', Journal of Pediatrics, vol. 160, no. 4. https://doi.org/10.1016/j.jpeds.2011.12.001
Vece, Timothy J. ; Schecter, Marc G. ; Gatti, Richard A. ; Tunuguntla, Rashmi ; Garcia, Christine Kim ; Langston, Claire ; Dishop, Megan K. ; Moore, Robert H. ; Fan, Leland L. / Rapid and progressive pulmonary fibrosis in 2 families with DNA repair deficiencies of undetermined etiology. In: Journal of Pediatrics. 2012 ; Vol. 160, No. 4.
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