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

Citation
Hr. Collard et al., Possible extrathymic development of nonfunctional T cells in a patient with complete DiGeorge syndrome, CLIN IMMUNO, 91(2), 1999, pp. 156-162
Citations number
17
Categorie Soggetti
Clinical Immunolgy & Infectious Disease",Immunology
Journal title
CLINICAL IMMUNOLOGY
ISSN journal
15216616 → ACNP
Volume
91
Issue
2
Year of publication
1999
Pages
156 - 162
Database
ISI
SICI code
1521-6616(199905)91:2<156:PEDONT>2.0.ZU;2-P
Abstract
Complete DiGeorge syndrome is characterized by the clinical triad of cardia c malformation, hypocalcemia and T cell immunodeficiency due to congenital athymia. We describe an infant with complete DiGeorge syndrome who at prese ntation had no circulating T cells detectable by flow cytometry. The patien t spontaneously developed circulating T cells but these cells did not proli ferate in response to mitogens. The T cell receptor V beta repertoire was s everely restricted. All T cells were host, not maternal, as assessed by flu orescent in situ hybridization evaluation of 22q11 hemizygosity. At autopsy , this patient had no grossly detectable thymus tissue and no microscopic e vidence for thymopoiesis. These findings suggest that clearance of T cells in infants with complete DiGeorge syndrome may represent oligoclonal expans ions of a small number of T cells that may have matured extrathymically and which do not respond in vitro to mitogen stimulation. (C) 1999 Academic Pr ess.