ArticleCase reports in pulmonology2016
TINF2 Gene Mutation in a Patient with Pulmonary Fibrosis.
Article in Case reports in pulmonology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 24 citations in OpenAlex.
- Telomere biology disorders associated with childhood interstitial lung disease.Clinical and experimental pediatrics · 2026Article
- Genomic Fingerprint Associated with Familial Idiopathic Pulmonary Fibrosis: A Review.International journal of medical sciences · 2023Review
- The Genetic and Epigenetic Footprint in Idiopathic Pulmonary Fibrosis and Familial Pulmonary Fibrosis: A State-of-the-Art Review.Diagnostics (Basel, Switzerland) · 2022Review
- Autoimmune Neutropenia and Immune-Dysregulation in a Patient Carrying aInternational journal of molecular sciences · 2022Article
- Telomere dysfunction implicates POT1 in patients with idiopathic pulmonary fibrosis.The Journal of experimental medicine · 2022Article
- Telomeres in toxicology: Occupational health.Pharmacology & therapeutics · 2021Review
- The Extent of Inflammatory Cell Infiltrate and Fibrosis in Lungs of Telomere- and Surfactant-Related Familial Pulmonary Fibrosis.Frontiers in medicine · 2021Article
- Telomere Dysfunction in Idiopathic Pulmonary Fibrosis.Frontiers in medicine · 2021Review
- Revesz syndrome revisited.Orphanet journal of rare diseases · 2020Review
- Dyskeratosis congenita.Autopsy & case reports · 2020Article
- Alveolar Epithelial Type II Cells as Drivers of Lung Fibrosis in Idiopathic Pulmonary Fibrosis.International journal of molecular sciences · 2020Review
- Review
- An update on the biology and management of dyskeratosis congenita and related telomere biology disorders.Expert review of hematology · 2019Review
- Initiation of Pulmonary Fibrosis after Silica Inhalation in Rats is linked with Dysfunctional Shelterin Complex and DNA Damage Response.Scientific reports · 2019Article
- Insights from human genetic studies of lung and organ fibrosis.The Journal of clinical investigation · 2018Review
- Telomere-driven diseases and telomere-targeting therapies.The Journal of cell biology · 2017Review
- Short telomere length in IPF lung associates with fibrotic lesions and predicts survival.PloS one · 2017Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pulmonary fibrosis is a frequent manifestation of telomere syndromes. Telomere gene mutations are found in up to 25% and 3% of patients with familial disease and sporadic disease, respectively. The telomere gene TINF2 encodes an eponymous protein that is part of the shelterin complex, a complex involved in telomere protection and maintenance. A TINF2 gene mutation was recently reported in a family with pulmonary fibrosis. We identified a heterozygous Ser245Tyr mutation in the TINF2 gene of previously healthy female patient that presented with progressive cough due to pulmonary fibrosis as well as panhypogammaglobulinemia at age 52. Retrospective multidisciplinary evaluation classified her as a case of possible idiopathic pulmonary fibrosis. Telomere length-measurement indicated normal telomere length in the peripheral blood compartment. This is the first report of a TINF2 mutation in a patient with sporadic pulmonary fibrosis, which represents another association between TINF2 mutations and this disease. Furthermore, this case underlines the importance of telomere dysfunction and not telomere length alone in telomere syndromes and draws attention to hypogammaglobulinemia as a manifestation of telomere syndromes.
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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.