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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2016
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4925012/
https://www.ncbi.nlm.nih.gov/pubmed/27242165
http://dx.doi.org/10.1084/jem.20151110

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4925012/
https://www.ncbi.nlm.nih.gov/pubmed/27242165
http://dx.doi.org/10.1084/jem.20151110

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