title: Possible extrathymic development of nonfunctional T cells in a patient with complete DiGeorge syndrome.
abstract: 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.
authors.affiliation: Division of Allergy and Immunology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
authors.forename: H R
authors.initials: HR
authors.lastname: Collard
authors.forename: A
authors.initials: A
authors.lastname: Boeck
authors.forename: T M
authors.initials: TM
authors.lastname: Mc Laughlin
authors.forename: T J
authors.initials: TJ
authors.lastname: Watson
authors.forename: S E
authors.initials: SE
authors.lastname: Schiff
authors.forename: L P
authors.initials: LP
authors.lastname: Hale
authors.forename: M L
authors.initials: ML
authors.lastname: Markert
mesh_terms: D001402:B-Lymphocytes / Q000276:immunology; D004062:DiGeorge Syndrome / Q000276:immunology* / Q000473:pathology; D004848:Epithelium; D005260:Female; D005434:Flow Cytometry; D006801:Humans; D007223:Infant; D016131:Lymphocyte Subsets / Q000276:immunology; D016693:Receptors, Antigen, T-Cell, alpha-beta / Q000276:immunology; D012867:Skin / Q000276:immunology; D013194:Staining and Labeling / Q000379:methods; D013601:T-Lymphocytes / Q000276:immunology*; D013950:Thymus Gland
chemical_list: D016693:Receptors, Antigen, T-Cell, alpha-beta