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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

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

Takaki Asano, Joëlle Khourieh, Peng Zhang, Franck Rapaport, András N. Spaan, Juan Li, Wei-Te Lei, Simon J. Pelham, David Hum, Maya Chrabieh, Ji Eun Han, Antoine Guérin, Joseph Mackie, Sudhir Gupta, Biman Saikia, Jamila E.I. Baghdadi, Ilham Fadil, Aziz Bousfiha, Tanwir Habib, Nico Marr, Luckshman Ganeshanandan, Jane Peake, Luke Droney, Andrew Williams, Fatih Celmeli, Nevin Hatipoglu, Tayfun Ozcelik, Capucine Picard, Laurent Abel, Stuart G. Tangye, Stéphanie Boisson-Dupuis, Qian Zhang, Anne Puel, Vivien Béziat, Jean-Laurent Casanova, Bertrand Boisson
Journal: Journal of Experimental Medicine
J Exp Med (2021) 218 (8): e20202592.
https://doi.org/10.1084/jem.20202592
Published: 17 June 2021
View article titled, Human <em>STAT3</em> variants underlie autosomal dominant hyper-IgE syndrome by negative dominance
Open the PDF for Human <em>STAT3</em> variants underlie autosomal dominant hyper-IgE syndrome by negative dominance in another window
Includes: Supplementary data