Portal de Periódicos da CAPES

Human congenital T-cell receptor disorders

2014; Volume: 2; Issue: 1 Linguagem: Inglês

10.14785/lpsn-2014-0012

2292-5945

Ana V. Marín, Beatriz Garcillán, Anaïs Jiménez-Reinoso, Miguel Muñoz‐Ruiz, Alejandro C. Briones, Edgar Fernández-Malavé, María J. Recio, José R. Regueiro,

T-cell and B-cell Immunology

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.