ArticleBlood2019
CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis.
Article in Blood, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
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.
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Who cites it
48 citing papers in PubMed, 71 citations in OpenAlex.
- Regulation of immune checkpoint molecules in cancer immune evasion and therapy.Nature reviews. Cancer · 2026Review
- A Comprehensive Literature Review and Case Report of Severe Lymphoproliferative Disease Secondary toJournal of clinical medicine · 2026Article
- Abnormal immunoglobulin expression and B-cell follicle organization in inborn errors of immunity/primary immunodeficiency.Virchows Archiv : an international journal of pathology · 2026Article
- Unraveling the inflammatory bridge: genomic evidence identifies TNFRSF9 as a potential biomarker linking Sjögren's syndrome to total risk non-Hodgkin lymphoma.Clinical rheumatology · 2026Article
- Investigating concomitant RAG-2 and LRBA mutations in SCID and autoimmunity.Clinical and experimental immunology · 2026Article
- Case Report: Characterization of a RAC2 R68W homozygous activating mutation causing combined immune deficiency.Frontiers in immunology · 2026Article
- Somatic reversion in CD137 deficiency correlating with Epstein-Barr virus control and clinical improvement.NPJ genomic medicine · 2025Article
- Review
- Article
- MD Simulation Reveals a Trimerization-Enhanced Interaction of CD137L with CD137.International journal of molecular sciences · 2025Article
- Clinical and functional characterization of a novelFrontiers in immunology · 2025Article
- A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy.Immunogenetics · 2024Article
- Agonist Antibodies for Cancer Immunotherapy: History, Hopes, and Challenges.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Review
- Article
- 4-1BB immunotherapy: advances and hurdles.Experimental & molecular medicine · 2024Review
- Novel heterozygous mutations ofBlood science (Baltimore, Md.) · 2024Article
- Novel target and treatment agents for natural killer/T-cell lymphoma.Journal of hematology & oncology · 2023Review
- Article
- CD137 deficiency because of two novel biallelicClinical & translational immunology · 2023Article
- Genetic lesions and targeted therapy in Hodgkin lymphoma.Therapeutic advances in hematology · 2023Review
Corrections and comments
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Authors and funding
36 authors at 9 institutions in 7 countries.
Funding
Abstract
Dysregulated immune responses are essential underlying causes of a plethora of pathologies including cancer, autoimmunity, and immunodeficiency. We here investigated 4 patients from unrelated families presenting with immunodeficiency, autoimmunity, and malignancy. We identified 4 distinct homozygous mutations in TNFRSF9 encoding the tumor necrosis factor receptor superfamily member CD137/4-1BB, leading to reduced, or loss of, protein expression. Lymphocytic responses crucial for immune surveillance, including activation, proliferation, and differentiation, were impaired. Genetic reconstitution of CD137 reversed these defects. CD137 deficiency is a novel inborn error of human immunity characterized by lymphocytic defects with early-onset Epstein-Barr virus (EBV)-associated lymphoma. Our findings elucidate a functional role and relevance of CD137 in human immune homeostasis and antitumor responses.
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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.