Partial defects of T-cell development associated with poor T-cell function

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

卷:131

Article

Notarangelo, Luigi D.^1,2 

[1] Childrens Hosp, Div Immunol, Boston, MA 02115 USA

[2] Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA

关键词: Immunodeficiency;    T-cell development;    thymus;    autoimmunity;    tolerance;   

DOI  :  10.1016/j.jaci.2013.01.020

来源: Elsevier

【 摘 要 】

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.

【 授权许可】

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