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.
authors.affiliation: Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. tjvece@texaschildrens.org
authors.forename: Timothy J
authors.initials: TJ
authors.lastname: Vece
authors.forename: Marc G
authors.initials: MG
authors.lastname: Schecter
authors.forename: Richard A
authors.initials: RA
authors.lastname: Gatti
authors.forename: Rashmi
authors.initials: R
authors.lastname: Tunuguntla
authors.forename: Christine Kim
authors.initials: CK
authors.lastname: Garcia
authors.forename: Claire
authors.initials: C
authors.lastname: Langston
authors.forename: Megan K
authors.initials: MK
authors.lastname: Dishop
authors.forename: Robert H
authors.initials: RH
authors.lastname: Moore
authors.forename: Leland L
authors.initials: LL
authors.lastname: Fan
mesh_terms: D049914:DNA Repair-Deficiency Disorders / Q000150:complications*; D018450:Disease Progression; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011658:Pulmonary Fibrosis / Q000235:genetics*; D013997:Time Factors