Molecular assessment of thymus capabilities in the evaluation of T-cell immunodeficiency

Ninette Amariglio, Atar Lev, Amos Simon, Ester Rosenthal, Zvi Spirer, Ori Efrati, Arnon Broides, Gideon Rechavi, Raz Somech

Research output: Contribution to journalArticlepeer-review

24 Scopus citations

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.

Original languageEnglish
Pages (from-to)211-216
Number of pages6
JournalPediatric Research
Volume67
Issue number2
DOIs
StatePublished - 1 Feb 2010

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