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William A Sewell
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Journal Articles

Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2

Tina Nguyen, Anthony Lau, Julia Bier, Kristen C. Cooke, Helen Lenthall, Stephanie Ruiz-Diaz, Danielle T. Avery, Henry Brigden, David Zahra, William A Sewell, Luke Droney, Satoshi Okada, Takaki Asano, Hassan Abolhassani, Zahra Chavoshzadeh, Roshini S. Abraham, Nipunie Rajapakse, Eric W. Klee, Joseph A. Church, Andrew Williams, Melanie Wong, Christoph Burkhart, Gulbu Uzel, David R. Croucher, David E. James, Cindy S. Ma, Robert Brink, Stuart G. Tangye, Elissa K. Deenick
Journal: Journal of Experimental Medicine
J Exp Med (2023) 220 (6): e20221020.
https://doi.org/10.1084/jem.20221020
Published: 21 March 2023
View article titled, Human <em>PIK3R1</em> mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2
Open the PDF for Human <em>PIK3R1</em> mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2 in another window
Includes: Supplementary data
Journal Articles

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

In Special Collection:
Inborn Errors of Immunity 2019
Danielle T. Avery, Alisa Kane, Tina Nguyen, Anthony Lau, Akira Nguyen, Helen Lenthall, Kathryn Payne, Wei Shi, Henry Brigden, Elise French, Julia Bier, Jana R. Hermes, David Zahra, William A. Sewell, Danyal Butt, Michael Elliott, Kaan Boztug, Isabelle Meyts, Sharon Choo, Peter Hsu, Melanie Wong, Lucinda J. Berglund, Paul Gray, Michael O’Sullivan, Theresa Cole, Steven M. Holland, Cindy S. Ma, Christoph Burkhart, Lynn M. Corcoran, Tri Giang Phan, Robert Brink, Gulbu Uzel, Elissa K. Deenick, Stuart G. Tangye
Journal: Journal of Experimental Medicine
J Exp Med (2018) 215 (8): 2073–2095.
https://doi.org/10.1084/jem.20180010
Published: 17 July 2018
View article titled, Germline-activating mutations in <em>PIK3CD</em> compromise B cell development and function
Open the PDF for Germline-activating mutations in <em>PIK3CD</em> compromise B cell development and function in another window
Includes: Supplementary data