Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT

The adapter protein linker for activation of T cells (LAT) is a critical signaling hub connecting T cell antigen receptor triggering to downstream T cell responses. In this study, we describe the first kindred with defective LAT signaling caused by a homozygous mutation in exon 5, leading to a prema...

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Detalhes bibliográficos
Publicado no:J Exp Med
Main Authors: Keller, Baerbel, Zaidman, Irina, Yousefi, O. Sascha, Hershkovitz, Dov, Stein, Jerry, Unger, Susanne, Schachtrup, Kristina, Sigvardsson, Mikael, Kuperman, Amir A., Shaag, Avraham, Schamel, Wolfgang W., Elpeleg, Orly, Warnatz, Klaus, Stepensky, Polina
Formato: Artigo
Idioma:Inglês
Publicado em: The Rockefeller University Press 2016
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4925012/
https://ncbi.nlm.nih.gov/pubmed/27242165
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20151110
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