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Journal Articles

Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus

In Special Collection:
Autoimmunity 2024
Marie Jeanpierre, Jade Cognard, Maud Tusseau, Quentin Riller, Linh-Chi Bui, Jérémy Berthelet, Audrey Laurent, Etienne Crickx, Marianna Parlato, Marie-Claude Stolzenberg, Felipe Suarez, Guy Leverger, Nathalie Aladjidi, Sophie Collardeau-Frachon, Christine Pietrement, Marion Malphettes, Antoine Froissart, Christine Bole-Feysot, Nicolas Cagnard, Fernando Rodrigues Lima, Thierry Walzer, Frédéric Rieux-Laucat, Alexandre Belot, Anne-Laure Mathieu
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (9): e20232337.
https://doi.org/10.1084/jem.20232337
Published: 19 July 2024
View articletitled, Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus
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Includes: Supplementary data
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 articletitled, Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency
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Includes: Supplementary data
Journal Articles

Rapid identification and characterization of infected cells in blood during chronic active Epstein-Barr virus infection

In Special Collection:
2020 Clinical Collection on Viral Infections
Benjamin Fournier, David Boutboul, Julie Bruneau, Charline Miot, Cécile Boulanger, Marion Malphettes, Isabelle Pellier, Bertrand Dunogué, Benjamin Terrier, Felipe Suarez, Stéphane Blanche, Martin Castelle, Sarah Winter, Henri-Jacques Delecluse, Thierry Molina, Capucine Picard, Stephan Ehl, Despina Moshous, Lionel Galicier, Vincent Barlogis, Alain Fischer, Bénédicte Neven, Sylvain Latour
Journal: Journal of Experimental Medicine
J Exp Med (2020) 217 (11): e20192262.
https://doi.org/10.1084/jem.20192262
Published: 18 August 2020
View articletitled, Rapid identification and characterization of infected cells in blood during chronic active Epstein-Barr virus infection
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Includes: Supplementary data