ArticleJournal of clinical immunology2022
T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects.
Article in Journal of clinical immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 15 citations in OpenAlex.
- Article
- A High-Throughput Sequencing Strategy for Clinical Repertoire Profiling of T Cell Receptor Beta Chain: Development and Reference Values Across Healthy Adults, Paediatrics, and Cord Blood Units.International journal of molecular sciences · 2025Article
- Age-Related Dynamics and Spectral Characteristics of the TCRβ Repertoire in Healthy Children: Implications for Immune Aging.Aging cell · 2025Article
- Evaluation of T-cell repertoire by flow cytometric analysis in primary immunodeficiencies with DNA repair defects.Scandinavian journal of immunology · 2025Article
- In-depth immune profiling of a patient with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2 caused by a novel mutation in ZBTB24.Clinical and experimental immunology · 2025Article
- Topoisomerase 1 is required for the development and function of thymus.Journal of immunology (Baltimore, Md. : 1950) · 2025Article
- Deficiency of salt-inducible kinase 2 (SIK2) promotes immune injury by inhibiting the maturation of lymphocytes.MedComm · 2023Article
- Immune Repertoire Profiling Reveals Its Clinical Application Potential and Triggers for Neuromyelitis Optica Spectrum Disorders.Neurology(R) neuroimmunology & neuroinflammation · 2023Article
- Profiling the epigenetic landscape of the antigen receptor repertoire: the missing epi-immunogenomics data.Nature methods · 2023Article
- From thymus to tissues and tumors: A review of T-cell biology.The Journal of allergy and clinical immunology · 2023Review
- Premature Infants Have Normal Maturation of the T Cell Receptor Repertoire at Term.Frontiers in immunology · 2022Article
Corrections and comments
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Authors and funding
17 authors at 4 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Both DNA damage response and methylation play a crucial role in antigen receptor recombination by creating a diverse repertoire in developing lymphocytes, but how their defects relate to T cell repertoire and phenotypic heterogeneity of immunodeficiency remains obscure. We studied the TCR repertoire in patients with the mutation in different genes (ATM, DNMT3B, ZBTB24, RAG1, DCLRE1C, and JAK3) and uncovered distinct characteristics of repertoire diversity. We propose that early aberrancies in thymus T cell development predispose to the heterogeneous phenotypes of the immunodeficiency spectrum. Shorter CDR3 lengths in ATM-deficient patients, resulting from a decreased number of nucleotide insertions during VDJ recombination in the pre-selected TCR repertoire, as well as the increment of CDR3 tyrosine residues, lead to the enrichment of pathology-associated TCRs, which may contribute to the phenotypes of ATM deficiency. Furthermore, patients with DNMT3B and ZBTB24 mutations who exhibit discrepant phenotypes present longer CDR3 lengths and reduced number of known pathology-associated TCRs.
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