Publications 2023

Single-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress response

Camille de Cevins, Laure Delage, Maxime Batignes, Quentin Riller, Marine Luka, Anne Remaury, Boris Sorin, Tinhinane Fali, Cécile Masson, Bénédicte Hoareau, Catherine Meunier, Mélanie Parisot, Mohammed Zarhrate, Brieuc P Pérot, Víctor García-Paredes, Francesco Carbone, Lou Galliot, Béatrice Nal, Philippe Pierre, Luc Canard, Charlotte Boussard, Etienne Crickx, Jean-Claude Guillemot, Brigitte Bader-Meunier, Alexandre Bélot, Pierre Quartier, Marie-Louise Frémond, Bénédicte Neven, Galina Boldina, Franck Augé, Fischer Alain, Michel Didier, Frédéric Rieux-Laucat, Mickaël M Ménager. 

Cell Rep Med. 2023 Dec 19;4(12):101333. doi: 10.1016/j.xcrm.2023.101333.

Successful treatment of JAK1 associated inflammatory disease

Antoine Fayand, Véronique Hentgen, Céline Posseme, Carole Lacout, Capucine Picard, Philippe Moguelet, Margaux Cescato, Nabiha Sbeih, Thomas R J Moreau, Yixiang Yj Zhu, Jean-Luc Charuel, Aurélien Corneau, Joelle Deibener-Kaminsky, Stéphanie Dupuy, Mathieu Fusaro, Benedicte Hoareau, Alain Hovnanian, Vincent Langlois, Laurent Le Corre, Thiago T Maciel, Snaigune Miskinyte, Makoto Miyara, Thomas Moulinet, Magali Perret, Marie Hélène Schuhmacher, Rachel Rignault-Bricard, Sébastien Viel, Angélique Vinit, Angèle Soria, Darragh Duffy, Jean-Marie Launay, Jacques Callebert, Jean Philippe Herbeuval, Mathieu P Rodero, Sophie Georgin-Lavialle.

J Allergy Clin Immunol. 2023 Oct;152(4):972-983. doi: 10.1016/j.jaci.2023.06.004. Epub 2023 Jun 19.

NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells

Laure Delage, Francesco Carbone, Quentin Riller, Jean-Luc Zachayus, Erwan Kerbellec, Armelle Buzy, Marie-Claude Stolzenberg, Marine Luka, Camille de Cevins, Georges Kalouche, Rémi Favier, Alizée Michel, Sonia Meynier, Aurélien Corneau, Caroline Evrard, Nathalie Neveux, Sébastien Roudières, Brieuc P Pérot, Mathieu Fusaro, Christelle Lenoir, Olivier Pellé, Mélanie Parisot, Marc Bras, Sébastien Héritier, Guy Leverger, Anne-Sophie Korganow, Capucine Picard, Sylvain Latour, Bénédicte Collet, Alain Fischer, Bénédicte Neven, Aude Magérus, Mickaël Ménager, Benoit Pasquier, Frédéric Rieux-Laucat.

Nat Commun. 2023 Jun 22;14(1):3728. doi: 10.1038/s41467-023-39295-7.

The claudin-like apicomplexan microneme protein is required for gliding motility and infectivity of Plasmodium sporozoites

Manon Loubens, Carine Marinach, Clara-Eva Paquereau, Soumia Hamada, Bénédicte Hoareau-Coudert, David Akbar, Jean-François Franetich, Olivier Silvie.

PLoS Pathog. 2023 Mar 16;19(3):e1011261. doi: 10.1371/journal.ppat.1011261. eCollection 2023 Mar.

A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency

Romane Thouenon, Loïc Chentout, Nidia Moreno-Corona, Lucie Poggi, Emilia Puig Lombardi, Benedicte Hoareau, Yohann Schmitt, Chantal Lagresle-Peyrou, Jacinta Bustamante, Isabelle André, Marina Cavazzana, Anne Durandy, Jean-Laurent Casanova, Lionel Galicier, Jehane Fadlallah, Alain Fischer, Sven Kracker.

J Exp Med. 2023 Jun 5;220(6):e20221292. doi: 10.1084/jem.20221292. Epub 2023 Mar 14.

Exploring the genetic landscape of HCV-related B-cell lymphomas using whole exome sequencing

Marine Armand, Michaël Degaud, Bruno Tesson, Cécile Laurent, Manon Vavasseur, Mélanie Parisot, Bénédicte Hoareau-Coudert, Danielle Canioni, Jean Marie Michot, Frédéric Charlotte, Véronique Meignin, Camille Laurent, Alexandra Traverse-Gléhen, Diane Damotte, Emmanuel Bachy, Caroline Besson, Olivier Hermine, Frédéric Davi, Lucile Couronné.

Leukemia. 2023 Mar 13. doi: 10.1038/s41375-023-01868-2. Online ahead of print.

Single-cell mass cytometry on peripheral cells in Myasthenia Gravis identifies dysregulation of innate immune cells
Julien Verdier, Odessa-Maud Fayet, Edouard Hemery, Frédérique Truffault, Natalia Pinzón, Sophie Demeret, Anthony Behin, Elie Fadel, Julien Guihaire, Aurélien Corneau, Catherine Blanc, Sonia Berrih-Aknin, Rozen Le Panse.
Front Immunol. 2023 Jan 30;14:1083218. doi: 10.3389/fimmu.2023.1083218. eCollection 2023.

A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency
IRF4 International Consortium; Oriol Fornes, Alicia Jia, Hye Sun Kuehn, Qing Min, Ulrich Pannicke, Nikolai Schleussner, Romane Thouenon, Zhijia Yu, María de Los Angeles Astbury, Catherine M Biggs, Miguel Galicchio, Jorge Alberto Garcia-Campos, Silvina Gismondi, Guadalupe Gonzalez Villarreal, Kyla J Hildebrand, Manfred Hönig, Jia Hou, Despina Moshous, Stefania Pittaluga, Xiaowen Qian, Jacob Rozmus, Ansgar S Schulz, Aidé Tamara Staines-Boone, Bijun Sun, Jinqiao Sun, Schauer Uwe, Edna Venegas-Montoya, Wenjie Wang, Xiaochuan Wang, Wenjing Ying, Xiaowen Zhai, Qinhua Zhou, Altuna Akalin, Isabelle André, Thomas F E Barth, Bernd Baumann, Anne Brüstle, Gaetan Burgio, Jacinta C Bustamante, Jean-Laurent Casanova, Marco G Casarotto, Marina Cavazzana, Loïc Chentout, Ian A Cockburn, Mariantonia Costanza, Chaoqun Cui, Oliver Daumke, Kate L Del Bel, Hermann Eibel, Xiaoqian Feng, Vedran Franke, J Christof M Gebhardt, Andrea Götz, Stephan Grunwald, Bénédicte Hoareau, Timothy R Hughes, Eva-Maria Jacobsen, Martin Janz, Arttu Jolma, Chantal Lagresle-Peyrou, Nannan Lai, Yaxuan Li, Susan Lin, Henry Y Lu, Saul O Lugo-Reyes, Xin Meng, Peter Möller, Nidia Moreno-Corona, Julie E Niemela, Gherman Novakovsky, Jareb J Perez-Caraballo, Capucine Picard, Lucie Poggi, Maria-Emilia Puig-Lombardi, Katrina L Randall, Anja Reisser, Yohann Schmitt, Sandali Seneviratne, Mehul Sharma, Jennifer Stoddard, Srinivasan Sundararaj, Harry Sutton, Linh Q Tran, Ying Wang, Wyeth W Wasserman, Zichao Wen, Wiebke Winkler, Ermeng Xiong, Ally W H Yang, Meiping Yu, Lumin Zhang, Hai Zhang, Qian Zhao, Xin Zhen, Anselm Enders, Sven Kracker, Ruben Martinez-Barricarte, Stephan Mathas, Sergio D Rosenzweig, Klaus Schwarz, Stuart E Turvey, Ji-Yang Wang. Sci Immunol. 2023 Jan 20;8(79):eade7953. doi: 10.1126/sciimmunol.ade7953. Epub 2023 Jan 20.

Late-onset enteric virus infection associated with hepatitis (EVAH) in transplanted SCID patients
Quentin Riller, Jacques Fourgeaud, Julie Bruneau, Suk See De Ravin, Grace Smith, Mathieu Fusaro, Samy Meriem, Aude Magerus, Marine Luka, Ghaith Abdessalem, Ludovic Lhermitte, Anne Jamet, Emmanuelle Six, Alessandra Magnani, Martin Castelle, Romain Lévy, Mathilde M Lecuit, Benjamin Fournier, Sarah Winter, Michaela Semeraro, Graziella Pinto, Hanène Abid, Nizar Mahlaoui, Nathalie Cheikh, Benoit Florkin, Pierre Frange, Eric Jeziorski, Felipe Suarez, Françoise Sarrot-Reynauld, Dalila Nouar, Dominique Debray, Florence Lacaille, Capucine Picard, Philippe Pérot, Béatrice Regnault, Nicolas Da Rocha, Camille de Cevins, Laure Delage, Brieuc P Pérot, Angélique Vinit, Francesco Carbone, Camille Brunaud, Manon Marchais, Marie-Claude Stolzenberg, Vahid Asnafi, Thierry Molina, Frédéric Rieux-Laucat, Luigi D Notarangelo, Stefania Pittaluga, Jean Philippe Jais, Despina Moshous, Stephane Blanche, Harry Malech, Marc Eloit, Marina Cavazzana, Alain Fischer, Mickaël M Ménager, Bénédicte Neven.

J Allergy Clin Immunol. 2023 Jan 10:S0091-6749(23)00009-X. doi: 10.1016/j.jaci.2022.12.822. Online ahead of print.PMID: 36638922