Abstract
T-cell immunodeficiency may pose a diagnostic challenge to clinicians, especially when the basic T-cell immune workup is not sufficiently informative. An intensive assessment of thymus capabilities that involves either measuring the recent thymic emigrant cells or analyzing the T-cell receptor (TCR) repertoire is often required to estimate the severity and nature of the immune disorder. A comprehensive T-cell immune workup, including TCR excision circles (TRECs) and TCR repertoire analyses, was performed in three patients with various degrees of severity of T-cell immunodeficiency. All three patients had normal peripheral CD3+ T lymphocytes. TCR repertoire analysis revealed oligoclonal (patient 1), restricted (patient 2), and near-normal (patient 3) patterns. TREC quantification was significantly reduced in patients 1 and 2 but normal in patient 3. Based on clinical features at presentation and at follow-up, and supported by the results of immunologic studies, patients 1 and 2 were diagnosed as having significant T-cell immunodeficiency and patient 3 as having T-cell immunocompetence. Assessment of thymus capabilities by TRECs and TCR repertoire analyses is helpful in diagnosing patients with T-cell immunodeficiency and should be part of the evaluation of every patient suspected of having that condition.
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Abbreviations
- PBMCs:
-
peripheral blood mononuclear cells
- SCID:
-
severe combined immunodeficiency
- TCR:
-
T-cell receptor
- TRECs:
-
T-cell receptor excision circles
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We thank Esther Eshkol for editorial assistance.
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Amariglio, N., Lev, A., Simon, A. et al. Molecular Assessment of Thymus Capabilities in the Evaluation of T-Cell Immunodeficiency. Pediatr Res 67, 211–216 (2010). https://doi.org/10.1203/PDR.0b013e3181c6e554
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DOI: https://doi.org/10.1203/PDR.0b013e3181c6e554
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