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

Pediatr Res. 2010 Feb;67(2):211-6. doi: 10.1203/PDR.0b013e3181c6e554.

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.

Publication types

  • Case Reports

MeSH terms

  • Antigens, CD19 / analysis
  • CD3 Complex / analysis
  • Child, Preschool
  • Female
  • Flow Cytometry
  • Gene Rearrangement, gamma-Chain T-Cell Antigen Receptor
  • Humans
  • Immunocompetence
  • Immunologic Deficiency Syndromes / diagnosis*
  • Immunologic Deficiency Syndromes / genetics
  • Immunologic Deficiency Syndromes / immunology
  • Immunophenotyping
  • Infant
  • Polymerase Chain Reaction
  • Predictive Value of Tests
  • Receptors, Antigen, T-Cell / genetics*
  • Receptors, Antigen, T-Cell, alpha-beta / genetics
  • Receptors, Antigen, T-Cell, gamma-delta / genetics
  • Severity of Illness Index
  • T-Lymphocytes / immunology*
  • Thymus Gland / immunology*

Substances

  • Antigens, CD19
  • CD3 Complex
  • Receptors, Antigen, T-Cell
  • Receptors, Antigen, T-Cell, alpha-beta
  • Receptors, Antigen, T-Cell, gamma-delta