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11 |
Material Type: Artigo
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Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cellsBier, 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.Journal of allergy and clinical immunology, 2019-07, Vol.144 (1), p.236-253 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
12 |
Material Type: Artigo
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Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody productionLau, 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 KThe Journal of experimental medicine, 2020-02, Vol.217 (2) [Periódico revisado por pares]United States: Rockefeller University PressTexto completo disponível |
13 |
Material Type: Artigo
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Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiencyPillay, Bethany A ; Fusaro, Mathieu ; Gray, Paul E ; Statham, Aaron L ; Burnett, Leslie ; Bezrodnik, Liliana ; Kane, Alisa ; Tong, Winnie ; Abdo, Chrystelle ; Winter, Sarah ; Chevalier, Samuel ; Levy, Romain ; Masson, Cécile ; Schmitt, Yohann ; Bole, Christine ; Malphettes, Marion ; Macintyre, Elizabeth ; De Villartay, Jean-Pierre ; Ziegler, John B ; Smart, Joanne M ; Peake, Jane ; Aghamohammadi, Asghar ; Hammarström, Lennart ; Abolhassani, Hassan ; Picard, Capucine ; Fischer, Alain ; Latour, Sylvain ; Neven, Benedicte ; Tangye, Stuart G ; Ma, Cindy SThe Journal of clinical investigation, 2021-02, Vol.131 (3) [Periódico revisado por pares]United States: American Society for Clinical InvestigationTexto completo disponível |
14 |
Material Type: Artigo
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Dominant negative OTULIN-related autoinflammatory syndromeDavidson, Sophia ; Shibata, Yuri ; Collard, Sophie ; Zheng, Hongyu ; Kong, Klara ; Sun, June M ; Laohamonthonkul, Pawat ; Cerra, Anthony ; Kratina, Tobias ; Li, Margaret W Y ; Russell, Carolyn ; van Beek, Anna ; Kirk, Edwin P ; Walsh, Rebecca ; Alqanatish, Jubran ; Almojali, Abdullah ; Alsuwairi, Wafaa ; Alrasheed, Abdulrahman ; Lalaoui, Najoua ; Gray, Paul E ; Komander, David ; Masters, Seth LThe Journal of experimental medicine, 2024-06, Vol.221 (6) [Periódico revisado por pares]United StatesTexto completo disponível |
15 |
Material Type: Artigo
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Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patientsPillay, Bethany A ; Avery, Danielle T ; Smart, Joanne M ; Cole, Theresa ; Choo, Sharon ; Chan, Damien ; Gray, Paul E ; Frith, Katie ; Mitchell, Richard ; Phan, Tri Giang ; Wong, Melanie ; Campbell, Dianne E ; Hsu, Peter ; Ziegler, John B ; Peake, Jane ; Alvaro, Frank ; Picard, Capucine ; Bustamante, Jacinta ; Neven, Benedicte ; Cant, Andrew J ; Uzel, Gulbu ; Arkwright, Peter D ; Casanova, Jean-Laurent ; Su, Helen C ; Freeman, Alexandra ; Shah, Nirali ; Hickstein, Dennis D ; Tangye, Stuart G ; Ma, Cindy SJCI insight, 2019-06, Vol.5 (11) [Periódico revisado por pares]United States: American Society for Clinical InvestigationTexto completo disponível |
16 |
Material Type: Artigo
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Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccinationSokal, Aurélien ; Bastard, Paul ; Chappert, Pascal ; Barba-Spaeth, Giovanna ; Fourati, Slim ; Vanderberghe, Alexis ; Lagouge-Roussey, Pauline ; Meyts, Isabelle ; Gervais, Adrian ; Bouvier-Alias, Magali ; Azzaoui, Imane ; Fernández, Ignacio ; de la Selle, Andréa ; Zhang, Qian ; Bizien, Lucy ; Pellier, Isabelle ; Linglart, Agnès ; Rothenbuhler, Anya ; Marcoux, Estelle ; Anxionnat, Raphael ; Cheikh, Nathalie ; Léger, Juliane ; Amador-Borrero, Blanca ; Fouyssac, Fanny ; Menut, Vanessa ; Goffard, Jean-Christophe ; Storey, Caroline ; Demily, Caroline ; Mallebranche, Coralie ; Troya, Jesus ; Pujol, Aurora ; Zins, Marie ; Tiberghien, Pierre ; Gray, Paul E ; McNaughton, Peter ; Sullivan, Anna ; Peake, Jane ; Levy, Romain ; Languille, Laetitia ; Rodiguez-Gallego, Carlos ; Boisson, Bertrand ; Gallien, Sébastien ; Neven, Bénédicte ; Michel, Marc ; Godeau, Bertrand ; Abel, Laurent ; Rey, Felix A ; Weill, Jean-Claude ; Reynaud, Claude-Agnès ; Tangye, Stuart G ; Casanova, Jean-Laurent ; Mahévas, MatthieuThe Journal of experimental medicine, 2023-01, Vol.220 (1) [Periódico revisado por pares]United States: Rockefeller University PressTexto completo disponível |
17 |
Material Type: Artigo
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Getting to the bones of the matterGray, Paul E A ; McMullan, Brendan ; Ziegler, John BArchives of disease in childhood. Education and practice edition, 2010-12, Vol.95 (6), p.178-182 [Periódico revisado por pares]England: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
18 |
Material Type: Artigo
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Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccinationSokal, Aurelien ; Bastard, Paul ; Chappert, Pascal ; Barba-Spaeth, Giovanna ; Fourati, Slim ; Vanderberghe, Alexis ; Lagouge-Roussey, Pauline ; Meyts, Isabelle ; Gervais, Adrian ; Bouvier-Alias, Magali ; Azzaoui, Imane ; Fernandez, Ignacio ; de la Selle, Andrea ; Zhang, Qian ; Bizien, Lucy ; Pellier, Isabelle ; Linglart, Agnes ; Rothenbuhler, Anya ; Marcoux, Estelle ; Anxionnat, Raphael ; Cheikh, Nathalie ; Leger, Juliane ; Amador-Borrero, Blanca ; Fouyssac, Fanny ; Menut, Vanessa ; Goffard, Jean-Christophe ; Storey, Caroline ; Demily, Caroline ; Mallebranche, Coralie ; Troya, Jesus ; Pujol, Aurora ; Zins, Marie ; Tiberghien, Pierre ; Gray, Paul E ; McNaughton, Peter ; Sullivan, Anna ; Peake, Jane ; Levy, Romain ; Languille, Laetitia ; Rodiguez-Gallego, Carlos ; Boisson, Bertrand ; Gallien, Sebastien ; Neven, Benedicte ; Michel, Marc ; Godeau, Bertrand ; Abel, Laurent ; Rey, Felix A ; Weill, Jean-Claude ; Reynaud, Claude-Agnes ; Tangye, Stuart G ; Casanova, Jean-Laurent ; Mahevas, MatthieuJOURNAL OF EXPERIMENTAL MEDICINE, 2022-11, Vol.220 (1) [Periódico revisado por pares]ROCKEFELLER UNIV PRESSTexto completo disponível |
19 |
Material Type: Artigo
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Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiencyPillay, Bethany A ; Fusaro, Mathieu ; Gray, Paul E ; Statham, Aaron L ; Burnett, Leslie ; Bezrodnik, Liliana ; Kane, Alisa ; Tong, Winnie ; Abdo, Chrystelle ; Winter, Sarah ; Chevalier, Samuel ; Levy, Romain ; Masson, Cécile ; Schmitt, Yohann ; Bole, Christine ; Malphettes, Marion ; Macintyre, Elizabeth ; De, Jean-Pierre ; Ziegler, John B ; Smart, Joanne M ; Peake, Jane ; Aghamohammadi, Asghar ; Hammarström, Lennart ; Abolhassani, Hassan ; Picard, Capucine ; Fischer, Alain ; Latour, Sylvain ; Neven, Benedicte ; Tangye, Stuart G ; Ma, Cindy SThe Journal of clinical investigation, 2021-02, Vol.131 (3), p.1-17 [Periódico revisado por pares]Ann Arbor: American Society for Clinical InvestigationTexto completo disponível |
20 |
Material Type: Artigo
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Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody productionLau, 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 KJOURNAL OF EXPERIMENTAL MEDICINE, 2020-02, Vol.217 (2) [Periódico revisado por pares]ROCKEFELLER UNIV PRESSTexto completo disponível |