T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome

Blood. 2004 Feb 1;103(3):1020-5. doi: 10.1182/blood-2003-08-2824. Epub 2003 Oct 2.

Abstract

Patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) typically exhibit thymic hypoplasia, conotruncal cardiac defects, and hypoparathyroidism. The immunodeficiency that results from the thymic hypoplasia has been extensively described and consists primarily of T-cell lymphopenia. A curious feature of the T-cell lymphopenia is that the age-related rate of decline of T-cell numbers is slower in patients than controls. This leads to T-cell numbers in adulthood that are minimally decreased compared with controls. This suggests that homeostatic mechanisms might be acting to preserve the peripheral blood T-cell numbers in patients. We characterized changes in CD4/CD45RA and CD4/CD45RO T-cell populations in patients and controls of various ages and determined T-cell recombination excision circles and telomere length within the CD4/CD45RA population. Patients had evidence of accelerated conversion of naive to memory cells and had evidence of more extensive replicative history within the CD4/CD45RA compartment compared with controls. Oligoclonal T-cell receptor (TCR) Vbeta families and missing Vbeta families were seen more often in patients than controls. These data are consistent with homeostatic proliferation of T cells in patients with limited T-cell production due to thymic hypoplasia.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • CD4-Positive T-Lymphocytes / immunology
  • Case-Control Studies
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22 / genetics*
  • DiGeorge Syndrome / genetics*
  • DiGeorge Syndrome / immunology*
  • Homeostasis
  • Humans
  • Infant
  • Infant, Newborn
  • Leukocyte Common Antigens / metabolism
  • Middle Aged
  • Receptors, Antigen, T-Cell, alpha-beta / genetics
  • T-Lymphocyte Subsets / immunology*
  • Telomere / genetics
  • Thymus Gland / abnormalities*

Substances

  • Receptors, Antigen, T-Cell, alpha-beta
  • Leukocyte Common Antigens