Molecular Assessment of Thymus Capabilities in the Evaluation of T-Cell Immunodeficiency

作者：Amariglio Ninette; Lev Atar; Simon Amos; Rosenthal Ester; Spirer Zvi; Efrati Ori; Broides Arnon; Rechavi Gideon; Somech Raz^*

来源：Pediatric Research, 2010, 67(2): 211-216.

DOI：10.1203/PDR.0b013e3181c6e554

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 I), restricted (patient 2), and near-normal (patient 3) patterns. TREC quantification was significantly reduced in patients I 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 I 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. (Pediatr Res 67: 211-216, 2010)

• 出版日期2010-2