Possible extrathymic development of nonfunctional T cells in a patient with complete DiGeorge syndrome.

Journal Article (Journal Article)

Complete DiGeorge syndrome is characterized by the clinical triad of cardiac malformation, hypocalcemia, and T cell immunodeficiency due to congenital athymia. We describe an infant with complete DiGeorge syndrome who at presentation had no circulating T cells detectable by flow cytometry. The patient spontaneously developed circulating T cells but these cells did not proliferate in response to mitogens. The T cell receptor Vbeta repertoire was severely restricted. All T cells were host, not maternal, as assessed by fluorescent in situ hybridization evaluation of 22q11 hemizygosity. At autopsy, this patient had no grossly detectable thymus tissue and no microscopic evidence for thymopoiesis. These findings suggest that appearance of T cells in infants with complete DiGeorge syndrome may represent oligoclonal expansions of a small number of T cells that may have matured extrathymically and which do not respond in vitro to mitogen stimulation.

Full Text

Duke Authors

Cited Authors

  • Collard, HR; Boeck, A; Mc Laughlin, TM; Watson, TJ; Schiff, SE; Hale, LP; Markert, ML

Published Date

  • May 1999

Published In

Volume / Issue

  • 91 / 2

Start / End Page

  • 156 - 162

PubMed ID

  • 10227807

International Standard Serial Number (ISSN)

  • 1521-6616

Digital Object Identifier (DOI)

  • 10.1006/clim.1999.4691


  • eng

Conference Location

  • United States