ArticleClinical & developmental immunology2012
Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes.
Article in Clinical & developmental immunology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- IL2RG-related immunodeficiencies: from SCID to atypical presentations.Frontiers in immunology · 2026Review
- Topoisomerase 1 is required for the development and function of thymus.Journal of immunology (Baltimore, Md. : 1950) · 2025Article
- Evolutionary preservation of CpG dinucleotides in RAG1 may elucidate the relatively high rate of methylation-mediated mutagenesis of RAG1 transposase.Immunologic research · 2024Article
- Can T-cell and B-cell excision circles predict development of inhibitors in pediatric hemophilia A?Pediatric research · 2023Article
- Multiplex HDR for disease and correction modeling of SCID by CRISPR genome editing in human HSPCs.Molecular therapy. Nucleic acids · 2023Article
- Exhaustion‑like dysfunction of T and NKT cells in an X‑linked severe combined immunodeficiency patient with maternal engraftment by single‑cell analysis.International journal of molecular medicine · 2023Article
- Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.Journal of clinical immunology · 2021Article
- Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population.Clinical and experimental immunology · 2019Article
- Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.The Journal of allergy and clinical immunology · 2019Article
- Clonal and constricted T cell repertoire in Common Variable Immune Deficiency.Clinical immunology (Orlando, Fla.) · 2017Article
- First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights.Frontiers in immunology · 2017Article
- Primary immunodeficiencies associated with eosinophilia.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2016Review
- High-throughput sequencing reveals an altered T cell repertoire in X-linked agammaglobulinemia.Clinical immunology (Orlando, Fla.) · 2015Article
- Insight into normal thymic activity by assessment of peripheral blood samples.Immunologic research · 2015Article
- Co-existence of clonal expanded autologous and transplacental-acquired maternal T cells in recombination activating gene-deficient severe combined immunodeficiency.Clinical and experimental immunology · 2014Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionPatients with severe combined immunodeficiency (SCID) may present with residual circulating T cells. While all cells are functionally deficient, resulting in high susceptibility to infections, only some of these cells are causing autoimmune symptoms.
methodsHere we compared T-cell functions including the number of circulating CD3(+) T cells, in vitro responses to mitogens, T-cell receptor (TCR) repertoire, TCR excision circles (TREC) levels, and regulatory T cells (Tregs) enumeration in several immunodeficinecy subtypes, clinically presenting with nonreactive residual cells (MHC-II deficiency) or reactive cells. The latter includes patients with autoreactive clonal expanded T cell and patients with alloreactive transplacentally maternal T cells.
resultsMHC-II deficient patients had slightly reduced T-cell function, normal TRECs, TCR repertoires, and normal Tregs enumeration. In contrast, patients with reactive T cells exhibited poor T-cell differentiation and activity. While the autoreactive cells displayed significantly reduced Tregs numbers, the alloreactive transplacentally acquired maternal lymphocytes had high functional Tregs.
conclusionSCID patients presenting with circulating T cells show different patterns of T-cell activity and regulatory T cells enumeration that dictates the immunodeficient and autoimmune manifestations. We suggest that a high-tolerance capacity of the alloreactive transplacentally acquired maternal lymphocytes represents a toleration advantage, yet still associated with severe immunodeficiency.
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