Human congenital T-cell receptor disorders
Abstract
Immunodeficiencies of most T-cell receptor (TCR) components (TCRID) have been reported in almost 40 patients worldwide who have also, at times, shown signs of autoimmunity. We updated their clinical, immunological, and molecular features with an emphasis on practical diagnosis, as the range of the disorder grows in complexity with new partial defects. Cellular and animal models are also reviewed and in some cases reveal their limitations for predicting TCRID immunopathology.
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LymphoSign Journal
Volume 2 • Number 1 • March 2015
Pages: 3 - 19
History
Received: 27 August 2014
Accepted: 28 October 2014
Accepted manuscript online: 29 October 2014
Version of record online: 29 October 2014
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Ana V.M. Marin, Beatriz Garcillán, Anaïs Jiménez-Reinoso, Miguel Muñoz-Ruiz, Alejandro C. Briones, Edgar Fernández-Malavé, Maria J. Recio, and José R. Regueiro. 2015. Human congenital T-cell receptor disorders. LymphoSign Journal.
2(1): 3-19. https://doi.org/10.14785/lpsn-2014-0012
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