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

doi:10.1016/j.jpeds.2011.12.001

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 journal › Article › peer-review

7 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 language	English (US)
Pages (from-to)	700-702.e3
Journal	Journal of Pediatrics
Volume	160
Issue number	4
DOIs	https://doi.org/10.1016/j.jpeds.2011.12.001
State	Published - Apr 2012

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/j.jpeds.2011.12.001

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title = "Rapid and progressive pulmonary fibrosis in 2 families with DNA repair deficiencies of undetermined etiology",

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.",

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

year = "2012",

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doi = "10.1016/j.jpeds.2011.12.001",

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T1 - Rapid and progressive pulmonary fibrosis in 2 families with DNA repair deficiencies of undetermined etiology

AU - Vece, Timothy J.

AU - Schecter, Marc G.

AU - Gatti, Richard A.

AU - Tunuguntla, Rashmi

AU - Garcia, Christine Kim

AU - Langston, Claire

AU - Dishop, Megan K.

AU - Moore, Robert H.

AU - Fan, Leland L.

PY - 2012/4

Y1 - 2012/4

N2 - 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.

AB - 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.

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JO - Journal of Pediatrics

JF - Journal of Pediatrics

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ER -

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

Abstract

ASJC Scopus subject areas

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