ArticleEuropean journal of pediatrics2014
Different course of lung disease in two siblings with novel ABCA3 mutations.
Article in European journal of pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 2 syntheses or guidelines pooled it, 22 citations in OpenAlex.
- Old and emerging therapies for childhood interstitial lung disease (chILD): a systematic review.European respiratory review : an official journal of the European Respiratory Society · 2026Pooled it
- Systematic review of drug effects in humans and models with surfactant-processing disease.European respiratory review : an official journal of the European Respiratory Society · 2018Pooled it
- Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- The lost chILD: a case report of delayed diagnosis of surfactant protein C deficiency in a 15-year-old African male.Italian journal of pediatrics · 2025Article
- Novel Compound Heterozygous Mutation of theJournal of clinical medicine · 2025Article
- Article
- ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine.International journal of molecular sciences · 2023Article
- Gene Therapeutics for Surfactant Dysfunction Disorders: Targeting the Alveolar Type 2 Epithelial Cell.Human gene therapy · 2022Review
- Article
- [Dyspnea and ventilator dependence after birth in a full-term female infant].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2020Article
- Unusual long survival despite severe lung disease of a child with biallelic loss of function mutations in ABCA-3.Respiratory medicine case reports · 2018Article
- MUC5B expression and location in surfactant protein C mutations in children.Pediatric pulmonology · 2015Article
- Genotype-phenotype correlations for infants and children with ABCA3 deficiency.American journal of respiratory and critical care medicine · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the gene for adenosine triphosphate-binding cassette transporter subfamily A member 3 (ABCA3) have been reported in infants and children with surfactant deficiency and interstitial lung disease. We report a case of siblings found to be compound heterozygotes for two novel ABCA3 gene mutations but developing very different course of lung disease. The index case is a baby girl with severe interstitial lung disease that manifested on the first days of life. Her 4-year-old brother carrying the same mutations has no signs of lung disease so far. Our findings suggest the contribution of other genetic, epigenetic and environmental factors to discordant phenotype observed in patients carrying the same mutations in the ABCA3 gene. The clinical course of the index case suggests benefit of combined medical therapy in treating infants with ABCA3 deficiency.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.