ArticleLeukemia2021
Somatic mutations in lymphocytes in patients with immune-mediated aplastic anemia.
Article in Leukemia, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 59 citations in OpenAlex.
- Article
- Somatic mutations in CSK disrupt immune regulation in a Chinese aplastic anemia cohort.Communications biology · 2026Article
- Insights in bone marrow failure syndromes: take home messages from the 3rd ESH-EBMT-EHA-IPIG translational research conference.Bone marrow transplantation · 2025Article
- Common origins of autoimmune diseases and lymphoid malignancies.Trends in immunology · 2025Review
- Macrophage polarization, inflammatory monocytes, and impaired MDSCs are associated with murine and human immune aplastic anemia.Journal of leukocyte biology · 2025Article
- The association of nutritional and inflammatory status with cardiovascular and all-cause mortality risk among US patients with metabolic syndrome.Scientific reports · 2025Article
- Hematopoietic stem cell transplantation and immunosuppressive therapy: implications of clonal haematopoiesis.Annals of hematology · 2025Review
- Detection and Characterization of Clonal Hematopoiesis.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Implications of Clonal Hematopoiesis in Hematological and Non-Hematological Disorders.Cancers · 2024Review
- Somatic mutations in autoinflammatory and autoimmune disease.Nature reviews. Rheumatology · 2024Review
- Multidisciplinary approaches to study anaemia with special mention on aplastic anaemia (Review).International journal of molecular medicine · 2024Review
- Dysregulated T-cell homeostasis and decreased CD30Heliyon · 2024Article
- Somatic mutations associate with clonal expansion of CD8Science advances · 2024Article
- The constitutive activation of STAT3 gene and its mutations are at the crossroad between LGL leukemia and autoimmune disorders.Blood cancer journal · 2024Review
- The highs and lows of cyclic thrombocytopenia.British journal of haematology · 2024Review
- Causes and consequences of clonal hematopoiesis.Blood · 2023Review
- TGF-β-p-STAT1-LAIR2 axis has a "self-rescue" role for exhausted CD8Cellular oncology (Dordrecht, Netherlands) · 2023Article
- Single-cell RNA Sequencing Reveals Novel Cellular Factors for Response to Immunosuppressive Therapy in Aplastic Anemia.HemaSphere · 2023Article
- Review
- STAT1 overexpression triggers aplastic anemia: a pilot study unravelling novel pathogenetic insights in bone marrow failure.Clinical and experimental medicine · 2023Article
Corrections and comments
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Authors and funding
19 authors at 7 institutions in 4 countries.
Funding
Abstract
The prevalence and functional impact of somatic mutations in nonleukemic T cells is not well characterized, although clonal T-cell expansions are common. In immune-mediated aplastic anemia (AA), cytotoxic T-cell expansions are shown to participate in disease pathogenesis. We investigated the mutation profiles of T cells in AA by a custom panel of 2533 genes. We sequenced CD4+ and CD8+ T cells of 24 AA patients and compared the results to 20 healthy controls and whole-exome sequencing of 37 patients with AA. Somatic variants were common both in patients and healthy controls but enriched to AA patients' CD8+ T cells, which accumulated most mutations on JAK-STAT and MAPK pathways. Mutation burden was associated with CD8+ T-cell clonality, assessed by T-cell receptor beta sequencing. To understand the effect of mutations, we performed single-cell sequencing of AA patients carrying STAT3 or other mutations in CD8+ T cells. STAT3 mutated clone was cytotoxic, clearly distinguishable from other CD8+ T cells, and attenuated by successful immunosuppressive treatment. Our results suggest that somatic mutations in T cells are common, associate with clonality, and can alter T-cell phenotype, warranting further investigation of their role in the pathogenesis of AA.
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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.