Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects

The T cell receptor (TCR) signaling pathway is an ensemble of numerous proteins that are crucial for an adequate immune response. Disruption of any protein involved in this pathway leads to severe immunodeficiency and unfavorable clinical outcomes. Here, we describe an infant with severe immunodefic...

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Detalles Bibliográficos
Autores principales: Lev, Atar, Lee, Yu Nee, Sun, Guangping, Hallumi, Enas, Simon, Amos J., Zrihen, Keren S., Levy, Shiran, Beit Halevi, Tal, Papazian, Maria, Shwartz, Neta, Somekh, Ido, Levy-Mendelovich, Sarina, Wolach, Baruch, Gavrieli, Ronit, Vernitsky, Helly, Barel, Ortal, Javasky, Elisheva, Stauber, Tali, Ma, Chi A., Zhang, Yuan, Amariglio, Ninette, Rechavi, Gideon, Hendel, Ayal, Yablonski, Deborah, Milner, Joshua D., Somech, Raz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2020
Materias:
Brief Definitive Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7690938/
https://www.ncbi.nlm.nih.gov/pubmed/33231617
http://dx.doi.org/10.1084/jem.20201062

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7690938/
https://www.ncbi.nlm.nih.gov/pubmed/33231617
http://dx.doi.org/10.1084/jem.20201062

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