Journal of Clinical Immunology

, Volume 25, Issue 3, pp 265–274

Post-Natal Ontogenesis of the T-Cell Receptor CD4 and CD8 Vβ Repertoire and Immune Function in Children with DiGeorge Syndrome

  • Caterina Cancrini
  • Maria Luisa Romiti
  • Andrea Finocchi
  • Silvia Di Cesare
  • Patrizia Ciaffi
  • Claudia Capponi
  • Savita Pahwa
  • Paolo Rossi
Article

DOI: 10.1007/s10875-005-4085-3

Cite this article as:
Cancrini, C., Romiti, M.L., Finocchi, A. et al. J Clin Immunol (2005) 25: 265. doi:10.1007/s10875-005-4085-3

Abstract

DiGeorge syndrome (DGS) is a congenital disorder characterized by typical facial features, hypoparatyroidism, conotruncal cardiac defects and thymic hypoplasia. Although there are some reports addressing lymphocytes counts and function in DGS children over time, few data have been reported on the T-cell receptor Vβ (TCRBV) repertoire in relation to disease progression. The aim of this study was to evaluate the degree and nature of immunodeficiency and to investigate a possible correlation to clinical findings.

We used third complementary region (CDR3) size spectratyping as a tool for monitoring T-cell repertoire diversity in 7 DGS’s children. The rate of thymic output, the phenotype and function of peripheral T-cells and the humoral immunity were also investigated. At baseline a profound alteration of the TCR repertoire was noted, mainly in the CD8+ T-cells, in DGS patients when compared to a control group. Furthermore, analysis of thymic output showed a significant decrease in TCR rearrangement excision circles (TRECs) levels in the patient group. Immunoglobulin abnormalities were also detected. The observed TCR repertoire alterations, although not statistically significant, may suggest an increased susceptibility to infections. A parallel increase in the TCR repertoire diversity and clinical improvement occurred during the follow-up. Our results confirm that the extent of immunodeficiency is highly variable and could improve through childhood, and indicate that TCR repertoire may be a useful marker to clinically monitor thymic function in this primary immunodeficiency.

Key Words

DiGeorge syndromeTCR repertoire spectratypingTRECsrecurrent infections

Copyright information

© Springer Science + Business Media, Inc. 2005

Authors and Affiliations

  • Caterina Cancrini
    • 1
    • 2
  • Maria Luisa Romiti
    • 1
  • Andrea Finocchi
    • 1
    • 2
  • Silvia Di Cesare
    • 1
  • Patrizia Ciaffi
    • 2
  • Claudia Capponi
    • 2
  • Savita Pahwa
    • 3
  • Paolo Rossi
    • 1
    • 2
    • 4
  1. 1.Chair of Pediatrics, Department of Public HealthUniversity of Tor VergataRomeItaly
  2. 2.Division of Immunology and Infectious DiseasesChildren’s Hospital Bambino GesùRomeItaly
  3. 3.Immunology and Inflammation Center, North Shore LIJ Research InstituteNew York University School of MedicineManhasset
  4. 4.Department of Pediatrics, Department of Immunology and Infectious Disease, Children Hospital Bambino GesùTor Vergata UniversityRomeItaly