Germline-activating mutations in PIK3CD compromise B cell development and function
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
Published in The Journal of experimental medicine (06.08.2018)
Published in The Journal of experimental medicine (06.08.2018)
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Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells
Bier, Julia, Rao, Geetha, Payne, Kathryn, Brigden, Henry, French, Elise, Pelham, Simon J., Lau, Anthony, Lenthall, Helen, Edwards, Emily S.J., Smart, Joanne M., Cole, Theresa S., Choo, Sharon, Joshi, Avni Y., Abraham, Roshini S., O'Sullivan, Michael, Boztug, Kaan, Meyts, Isabelle, Gray, Paul E., Berglund, Lucinda J., Hsu, Peter, Wong, Melanie, Holland, Steven M., Notarangelo, Luigi D., Uzel, Gulbu, Ma, Cindy S., Brink, Robert, Tangye, Stuart G., Deenick, Elissa K.
Published in Journal of allergy and clinical immunology (01.07.2019)
Published in Journal of allergy and clinical immunology (01.07.2019)
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Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production
Lau, Anthony, Avery, Danielle T, Jackson, Katherine, Lenthall, Helen, Volpi, Stefano, Brigden, Henry, Russell, Amanda J, Bier, Julia, Reed, Joanne H, Smart, Joanne M, Cole, Theresa, Choo, Sharon, Gray, Paul E, Berglund, Lucinda J, Hsu, Peter, Wong, Melanie, O'Sullivan, Michael, Boztug, Kaan, Meyts, Isabelle, Uzel, Gulbu, Notarangelo, Luigi D, Brink, Robert, Goodnow, Christopher C, Tangye, Stuart G, Deenick, Elissa K
Published in The Journal of experimental medicine (03.02.2020)
Published in The Journal of experimental medicine (03.02.2020)
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Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2
Nguyen, Tina, Lau, Anthony, Bier, Julia, Cooke, Kristen C, Lenthall, Helen, Ruiz-Diaz, Stephanie, Avery, Danielle T, Brigden, Henry, Zahra, David, Sewell, William A, Droney, Luke, Okada, Satoshi, Asano, Takaki, Abolhassani, Hassan, Chavoshzadeh, Zahra, Abraham, Roshini S, Rajapakse, Nipunie, Klee, Eric W, Church, Joseph A, Williams, Andrew, Wong, Melanie, Burkhart, Christoph, Uzel, Gulbu, Croucher, David R, James, David E, Ma, Cindy S, Brink, Robert, Tangye, Stuart G, Deenick, Elissa K
Published in The Journal of experimental medicine (05.06.2023)
Published in The Journal of experimental medicine (05.06.2023)
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Activating mutations in PIK3CD and murine CD4+ T cells
Bier, Julia, Rao, Geetha, Payne, Kathryn, Brigden, Henry, French, Elise, Pelham, Simon J., Lau, Anthony, Lenthall, Helen, Edwards, Emily S.J., Smart, Joanne M., Cole, Theresa S., Choo, Sharon, Joshi, Avni Y., Abraham, Roshini S., O’Sullivan, Michael, Boztug, Kaan, Meyts, Isabelle, Gray, Paul E, Berglund, Lucinda J, Hsu, Peter, Wong, Melanie, Holland, Steven M., Notarangelo, Luigi D., Uzel, Gulbu, Ma, Cindy S., Brink, Robert, Tangye, Stuart G., Deenick, Elissa K.
Published in Journal of allergy and clinical immunology (06.02.2019)
Published in Journal of allergy and clinical immunology (06.02.2019)
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