Germline-activating mutations in PIK3CD compromise B cell development and function

Gain-of-function (GOF) mutations in PIK3CD, encoding the p110δ subunit of phosphatidylinositide 3-kinase (PI3K), cause a primary immunodeficiency. Affected individuals display impaired humoral immune responses following infection or immunization. To establish mechanisms underlying these immune defec...

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Detalles Bibliográficos
Autores principales: Avery, Danielle T., Kane, Alisa, Nguyen, Tina, Lau, Anthony, Nguyen, Akira, Lenthall, Helen, Payne, Kathryn, Shi, Wei, Brigden, Henry, French, Elise, Bier, Julia, Hermes, Jana R., Zahra, David, Sewell, William A., Butt, Danyal, Elliott, Michael, Boztug, Kaan, Meyts, Isabelle, Choo, Sharon, Hsu, Peter, Wong, Melanie, Berglund, Lucinda J., Gray, Paul, O’Sullivan, Michael, Cole, Theresa, Holland, Steven M., Ma, Cindy S., Burkhart, Christoph, Corcoran, Lynn M., Phan, Tri Giang, Brink, Robert, Uzel, Gulbu, Deenick, Elissa K., Tangye, Stuart G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2018
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080914/
https://www.ncbi.nlm.nih.gov/pubmed/30018075
http://dx.doi.org/10.1084/jem.20180010

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