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Emmanuel Martin
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Journal Articles

Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency

Romain Lévy, Florian Gothe, Mana Momenilandi, Thomas Magg, Marie Materna, Philipp Peters, Johannes Raedler, Quentin Philippot, Anita Lena Rack-Hoch, David Langlais, Mathieu Bourgey, Anna-Lisa Lanz, Masato Ogishi, Jérémie Rosain, Emmanuel Martin, Sylvain Latour, Natasha Vladikine, Marco Distefano, Taushif Khan, Franck Rapaport, Marian S. Schulz, Ursula Holzer, Anders Fasth, Georgios Sogkas, Carsten Speckmann, Arianna Troilo, Venetia Bigley, Anna Roppelt, Yael Dinur-Schejter, Ori Toker, Karen Helene Bronken Martinsen, Roya Sherkat, Ido Somekh, Raz Somech, Dror S. Shouval, Jörn-Sven Kühl, Winnie Ip, Elizabeth M. McDermott, Lucy Cliffe, Ahmet Ozen, Safa Baris, Hemalatha G. Rangarajan, Emmanuelle Jouanguy, Anne Puel, Jacinta Bustamante, Marie-Alexandra Alyanakian, Mathieu Fusaro, Yi Wang, Xiao-Fei Kong, Aurélie Cobat, David Boutboul, Martin Castelle, Claire Aguilar, Olivier Hermine, Morgane Cheminant, Felipe Suarez, Alisan Yildiran, Aziz Bousfiha, Hamoud Al-Mousa, Fahad Alsohime, Deniz Cagdas, Roshini S. Abraham, Alan P. Knutsen, Borre Fevang, Sagar Bhattad, Ayca Kiykim, Baran Erman, Tugba Arikoglu, Ekrem Unal, Ashish Kumar, Christoph B. Geier, Ulrich Baumann, Bénédicte Neven, CARMIL2 Consortium, Meino Rohlfs, Christoph Walz, Laurent Abel, Bernard Malissen, Nico Marr, Christoph Klein, Jean-Laurent Casanova, Fabian Hauck, Vivien Béziat
Journal: Journal of Experimental Medicine
J Exp Med (2022) 220 (2): e20220275.
https://doi.org/10.1084/jem.20220275
Published: 14 December 2022
View article titled, Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency
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Includes: Supplementary data
Journal Articles

Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis

In Special Collection:
Thymus, T Cell Development, and Inborn Errors
Masato Ogishi, Rui Yang, Rémy Rodriguez, Dominic P. Golec, Emmanuel Martin, Quentin Philippot, Jonathan Bohlen, Simon J. Pelham, Andrés Augusto Arias, Taushif Khan, Manar Ata, Fatima Al Ali, Flore Rozenberg, Xiao-Fei Kong, Maya Chrabieh, Candice Laine, Wei-Te Lei, Ji Eun Han, Yoann Seeleuthner, Zenia Kaul, Emmanuelle Jouanguy, Vivien Béziat, Leila Youssefian, Hassan Vahidnezhad, V. Koneti Rao, Bénédicte Neven, Claire Fieschi, Davood Mansouri, Mohammad Shahrooei, Sevgi Pekcan, Gulsum Alkan, Melike Emiroğlu, Hüseyin Tokgöz, Jouni Uitto, Fabian Hauck, Jacinta Bustamante, Laurent Abel, Sevgi Keles, Nima Parvaneh, Nico Marr, Pamela L. Schwartzberg, Sylvain Latour, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis
Journal: Journal of Experimental Medicine
J Exp Med (2022) 220 (1): e20220484.
https://doi.org/10.1084/jem.20220484
Published: 03 November 2022
View article titled, Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis
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Includes: Supplementary data
Journal Articles

Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells

Rémy Rodriguez, Benjamin Fournier, Debora Jorge Cordeiro, Sarah Winter, Kazushi Izawa, Emmanuel Martin, David Boutboul, Christelle Lenoir, Sylvie Fraitag, Sven Kracker, Tania H. Watts, Capucine Picard, Julie Bruneau, Isabelle Callebaut, Alain Fischer, Bénédicte Neven, Sylvain Latour
Journal: Journal of Experimental Medicine
J Exp Med (2019) 216 (12): 2800–2818.
https://doi.org/10.1084/jem.20190678
Published: 19 September 2019
View article titled, Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells
Open the PDF for Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells in another window
Includes: Supplementary data
Journal Articles

Inherited CD70 deficiency in humans reveals a critical role for the CD70–CD27 pathway in immunity to Epstein-Barr virus infection

In Special Collection:
Monogenic Auto-Inflammation and Auto-Immunity in Humans 2018
Kazushi Izawa, Emmanuel Martin, Claire Soudais, Julie Bruneau, David Boutboul, Rémy Rodriguez, Christelle Lenoir, Andrew D. Hislop, Caroline Besson, Fabien Touzot, Capucine Picard, Isabelle Callebaut, Jean-Pierre de Villartay, Despina Moshous, Alain Fischer, Sylvain Latour
Journal: Journal of Experimental Medicine
J Exp Med (2016) 214 (1): 73–89.
https://doi.org/10.1084/jem.20160784
Published: 23 December 2016
View article titled, Inherited CD70 deficiency in humans reveals a critical role for the CD70–CD27 pathway in immunity to Epstein-Barr virus infection
Open the PDF for Inherited CD70 deficiency in humans reveals a critical role for the CD70–CD27 pathway in immunity to Epstein-Barr virus infection in another window