Partial defects of T-cell development associated with poor T-cell function - 29/04/13
Corresponding author: Luigi D. Notarangelo, MD, Division of Immunology, Children’s Hospital Boston, Karp Research Bldg, 10th Floor, Rm 10217, 1 Blackfan Circle, Boston, MA 02115.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.
Le texte complet de cet article est disponible en PDF.Key words : Immunodeficiency, T-cell development, thymus, autoimmunity, tolerance
Abbreviations used : AIRE, CMV, CRAC, DOCK8, InsP3, ITK, LAT, Lck, MAGT1, MST1, NKT, OS, PLCγ, RAG, RHOH, SCID, STIM1, Syk, TCR, TEMRA, TREC, Treg, UNC119, ZAP70
Plan
| Supported in part by National Institutes of Health grant 1PO1AI076210-01A1R01, a March of Dimes grant, the Jeffrey Modell Foundation, and the Manton Foundation. |
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| Disclosure of potential conflict of interest: L. D. Notarangelo has received grants from the National Institutes of Health, the Manton Foundation, and the Jeffrey Modell Foundation; has served as a member on the Board of the Immune Disease Institute; is employed by Children’s Hospital Boston; has grants/grants pending from the National Institutes of Health, the March of Dimes, and the Wiskott-Aldrich Foundation; and has received royalties from UpToDate. |
Vol 131 - N° 5
P. 1297-1305 - mai 2013 Retour au numéro
Article précédent
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