title: Partial defects of T-cell development associated with poor T-cell function.
abstract: For many years, severe combined immune deficiency diseases, which are characterized by virtual lack of circulating T cells and severe predisposition to infections since early in life, have been considered the prototypic forms of genetic defects of T-cell development. More recently, advances in genome sequencing have allowed identification of a growing number of gene defects that cause severe but incomplete defects in T-cell development, function, or both. Along with recurrent and severe infections, especially cutaneous viral infections, the clinical phenotype of these conditions is characterized by prominent immune dysregulation.
authors: Division of Immunology and the Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, MA 02115, USA. luigi.notarangelo@childrens.harvard.edu
authors: Luigi D
authors: LD
authors: Notarangelo
mesh_terms: D002454:Cell Differentiation / Q000276:immunology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000276:immunology*; D016511:Severe Combined Immunodeficiency / Q000235:genetics / Q000276:immunology / Q000473:pathology; D013601:T-Lymphocytes / Q000276:immunology* / Q000473:pathology