ArticleThe Journal of clinical investigation2018
Short telomere syndromes cause a primary T cell immunodeficiency.
Article in The Journal of clinical investigation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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Who cites it
79 citing papers in PubMed, 1 synthesis or guideline pooled it, 119 citations in OpenAlex.
- Guideline
- Trial
- Clonal Signatures of Telomere Biology Disorders.Current hematologic malignancy reports · 2026Review
- Targeting immunosenescence in lung diseases: mechanistic insights and clinical interventions.BMC medicine · 2026Review
- Dyskerin dysfunction in cancer development: from telomere dysregulation to immune deficiency.American journal of cancer research · 2026Review
- Immune cells display an abnormal maturation and a proinflammatory profile in telomere biology disorders.Blood advances · 2025Article
- Belatacept as an alternative immunosuppressive agent for bone marrow-sparing in idiopathic pulmonary fibrosis lung transplant recipients with short telomeres.The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation · 2025Article
- Clinical and molecular features of immunodeficiency in patients with telomere biology disorders.Blood · 2025Article
- Peripheral and pulmonary telomere lengths in patients with non-idiopathic pulmonary fibrosis interstitial lung diseases.BMC pulmonary medicine · 2025Article
- Telomere biology disorders in lung transplantation: Clinical challenges and management strategies.JHLT open · 2025Review
- Viewpoint: Pre- and post-lung transplant considerations for patients with ultra-short telomere length.The European respiratory journal · 2025Article
- Beyond the Graft: Recurrence of Interstitial Lung Diseases Post Transplant.Journal of clinical medicine · 2025Review
- Modification of the telomerase gene with human regulatory sequences resets mouse telomeres to human length.Nature communications · 2025Article
- Contemporary insights into neuroimmune interactions across development and aging.Frontiers in neurology · 2025Review
- Telomere biology disorder presented with de novo pneumocystis jirovecii pneumonia: A case report.Respiratory medicine case reports · 2025Article
- Hematological complications in solid organ transplant recipients with telomere biology disorders: a narrative review.Frontiers in immunology · 2025Review
- Pulmonary, Hepatic, and Allogeneic Hematopoietic Stem Cell Transplantation in Patients with Telomere Biology Disorders.Current hematologic malignancy reports · 2024Review
- Inherited Telomere Biology Disorders: Pathophysiology, Clinical Presentation, Diagnostics, and Treatment.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2024Review
- Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.Nature genetics · 2024Article
- Shorter telomere length increases the risk of lymphocyte immunodeficiency: A Mendelian randomization study.Immunity, inflammation and disease · 2024Article
19 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 4 institutions in 1 country.
Funding
Abstract
The mechanisms that drive T cell aging are not understood. We report that children and adult telomerase mutation carriers with short telomere length (TL) develop a T cell immunodeficiency that can manifest in the absence of bone marrow failure and causes life-threatening opportunistic infections. Mutation carriers shared T cell-aging phenotypes seen in adults 5 decades older, including depleted naive T cells, increased apoptosis, and restricted T cell repertoire. T cell receptor excision circles (TRECs) were also undetectable or low, suggesting that newborn screening may identify individuals with germline telomere maintenance defects. Telomerase-null mice with short TL showed defects throughout T cell development, including increased apoptosis of stimulated thymocytes, their intrathymic precursors, in addition to depleted hematopoietic reserves. When we examined the transcriptional programs of T cells from telomerase mutation carriers, we found they diverged from older adults with normal TL. Short telomere T cells upregulated DNA damage and intrinsic apoptosis pathways, while older adult T cells upregulated extrinsic apoptosis pathways and programmed cell death 1 (PD-1) expression. T cells from mice with short TL also showed an active DNA-damage response, in contrast with old WT mice, despite their shared propensity to apoptosis. Our data suggest there are TL-dependent and TL-independent mechanisms that differentially contribute to distinct molecular programs of T cell apoptosis with aging.
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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.