A human immunodeficiency syndrome caused by mutations in CARMIL2

Human T-cell function is dependent on T-cell antigen receptor (TCR) and co-signalling as evidenced by immunodeficiencies affecting TCR-dependent signalling pathways. Here, we show four human patients with EBV(+) disseminated smooth muscle tumours that carry two homozygous loss-of-function mutations...

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Detalles Bibliográficos
Autores principales: Schober, T., Magg, T., Laschinger, M., Rohlfs, M., Linhares, N. D., Puchalka, J., Weisser, T., Fehlner, K., Mautner, J., Walz, C., Hussein, K., Jaeger, G., Kammer, B., Schmid, I., Bahia, M., Pena, S. D., Behrends, U., Belohradsky, B. H., Klein, C., Hauck, F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473639/
https://www.ncbi.nlm.nih.gov/pubmed/28112205
http://dx.doi.org/10.1038/ncomms14209

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473639/
https://www.ncbi.nlm.nih.gov/pubmed/28112205
http://dx.doi.org/10.1038/ncomms14209

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