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Journal Articles

Autoantibodies against type I IFNs in patients with Ph-negative myeloproliferative neoplasms

Oscar Borsani, Paul Bastard, Jérémie Rosain, Adrian Gervais, Emanuela Sant’Antonio, Daniele Vanni, Ilaria Carola Casetti, Daniela Pietra, Chiara Trotti, Silvia Catricalà, Virginia Valeria Ferretti, Luca Malcovati, Luca Arcaini, Jean-Laurent Casanova, Alessandro Borghesi, Elisa Rumi
Journal: Blood
Blood (2022) 139 (17): 2716–2720.
https://doi.org/10.1182/blood.2021014890
Published: 2022
Includes: Supplemental data
Journal Articles

An Autosomal Dominant Form of Ras-Related C3 Botulinum Toxin Substrate 2 (RAC2) Is Associated with Haematopoiesis Failure

Chantal Lagresle-Peyrou, Aurélien Olichon, Hanem Sadek, Philippe Roche, Claudine Tardy, Natael Sorel, Boris Bessot, Cindy Da Silva, Alain Fischer, Despina Moshous, Yves Collette, Capucine Picard, Jean-Laurent Casanova, Isabelle André, Marina Cavazzana
Journal: Blood
Blood (2021) 138 (Supplement 1): 4306.
https://doi.org/10.1182/blood-2021-150114
Published: 2021
Journal Articles

Autoantibodies Against Type I IFNs in Patients with Ph-Negative Myeloproliferative Neoplasms

Oscar Borsani, Paul Bastard, Jérémie Rosain, Adrian Gervais, Emanuela Sant'Antonio, Daniele Vanni, Ilaria Carola Casetti, Daniela Pietra, Chiara Trotti, Virginia Valeria Ferretti, Luca Malcovati, Luca Arcaini, Alessandro Borghesi, Jean-Laurent Casanova, Elisa Rumi
Journal: Blood
Blood (2021) 138 (Supplement 1): 3587.
https://doi.org/10.1182/blood-2021-150660
Published: 2021
Journal Articles

TLR8 gain of function: a tall surprise

Bertrand Boisson, Jean-Laurent Casanova
Journal: Blood
Blood (2021) 137 (18): 2420–2422.
https://doi.org/10.1182/blood.2020010463
Published: 2021
Journal Articles

Human TET2 bridges cancer and immunity

Qian Zhang, Jean-Laurent Casanova
Journal: Blood
Blood (2020) 136 (9): 1018–1019.
https://doi.org/10.1182/blood.2020006881
Published: 2020
Journal Articles

An Autosomal Dominant SCID Form Due to a Gain of Function Mutation in the RAC2 Gene

Chantal Lagresle-Peyrou, PhD, Aurélien Olichon, Hanem Sadek, Philippe Roche, Claudine Tardy, Cindy Da Silva, Alexandrine Garrigue, Alain Fischer, MD PhD, Despina Moshous, MD PhD, Yves Collette, Capucine Picard, MD PhD, Jean-Laurent Casanova, PhD MD, Isabelle André, PhD, Marina Cavazzana, MD PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 3742.
https://doi.org/10.1182/blood-2019-126855
Published: 2019
Journal Articles

T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency

Immacolata Brigida, Matteo Zoccolillo, Maria Pia Cicalese, Laurène Pfajfer, Federica Barzaghi, Serena Scala, Carmen Oleaga-Quintas, Jesus A. Álvarez-Álvarez, Lucia Sereni, Stefania Giannelli, Claudia Sartirana, Francesca Dionisio, Luca Pavesi, Marta Benavides-Nieto, Luca Basso-Ricci, Paola Capasso, Benedetta Mazzi, Jeremie Rosain, Nufar Marcus, Yu Nee Lee, Raz Somech, Massimo Degano, Giuseppe Raiola, Roberta Caorsi, Paolo Picco, Marcela Moncada Velez, Joelle Khourieh, Andrés Augusto Arias, Aziz Bousfiha, Thomas Issekutz, Andrew Issekutz, Bertrand Boisson, Kerry Dobbs, Anna Villa, Angelo Lombardo, Benedicte Neven, Despina Moshous, Jean-Laurent Casanova, José Luis Franco, Luigi D. Notarangelo, Cristina Scielzo, Stefano Volpi, Loïc Dupré, Jacinta Bustamante, Marco Gattorno, Alessandro Aiuti
Journal: Blood
Blood (2018) 132 (22): 2362–2374.
https://doi.org/10.1182/blood-2018-07-863431
Published: 2018
Includes: Supplemental data
Journal Articles

Hematopoietic stem cell gene therapy for IFNγR1 deficiency protects mice from mycobacterial infections

Miriam Hetzel, Adele Mucci, Patrick Blank, Ariane Hai Ha Nguyen, Jan Schiller, Olga Halle, Mark-Philipp Kühnel, Sandra Billig, Robert Meineke, Daniel Brand, Vanessa Herder, Wolfgang Baumgärtner, Franz-Christoph Bange, Ralph Goethe, Danny Jonigk, Reinhold Förster, Bernhard Gentner, Jean-Laurent Casanova, Jacinta Bustamante, Axel Schambach, Ulrich Kalinke, Nico Lachmann
Journal: Blood
Blood (2018) 131 (5): 533–545.
https://doi.org/10.1182/blood-2017-10-812859
Published: 2018
Includes: Multimedia, Supplemental data
Journal Articles

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG /NEMO mutations

Charline Miot, Kohsuke Imai, Chihaya Imai, Anthony J. Mancini, Zeynep Yesim Kucuk, Tokomki Kawai, Ryuta Nishikomori, Etsuro Ito, Isabelle Pellier, Sophie Dupuis Girod, Jeremie Rosain, Shinya Sasaki, Shanmuganathan Chandrakasan, Jana Pachlopnik Schmid, Tsubasa Okano, Estelle Colin, Alberto Olaya-Vargas, Marco Yamazaki-Nakashimada, Waseem Qasim, Sara Espinosa Padilla, Andrea Jones, Alfons Krol, Nyree Cole, Stephen Jolles, Jack Bleesing, Thomas Vraetz, Andrew R. Gennery, Mario Abinun, Tayfun Güngör, Beatriz Costa-Carvalho, Antonio Condino-Neto, Paul Veys, Steven M. Holland, Gulbu Uzel, Despina Moshous, Benedicte Neven, Stéphane Blanche, Stephan Ehl, Rainer Döffinger, Smita Y. Patel, Anne Puel, Jacinta Bustamante, Erwin W. Gelfand, Jean-Laurent Casanova, Jordan S. Orange, Capucine Picard
Journal: Blood
Blood (2017) 130 (12): 1456–1467.
https://doi.org/10.1182/blood-2017-03-771600
Published: 2017
Includes: Supplemental data
Journal Articles

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

Clinical Trials & Observations
Julie Toubiana, Satoshi Okada, Julia Hiller, Matias Oleastro, Macarena Lagos Gomez, Juan Carlos Aldave Becerra, Marie Ouachée-Chardin, Fanny Fouyssac, Katta Mohan Girisha, Amos Etzioni, Joris Van Montfrans, Yildiz Camcioglu, Leigh Ann Kerns, Bernd Belohradsky, Stéphane Blanche, Aziz Bousfiha, Carlos Rodriguez-Gallego, Isabelle Meyts, Kai Kisand, Janine Reichenbach, Ellen D. Renner, Sergio Rosenzweig, Bodo Grimbacher, Frank L. van de Veerdonk, Claudia Traidl-Hoffmann, Capucine Picard, Laszlo Marodi, Tomohiro Morio, Masao Kobayashi, Desa Lilic, Joshua D. Milner, Steven Holland, Jean-Laurent Casanova, Anne Puel
Journal: Blood
Blood (2016) 127 (25): 3154–3164.
https://doi.org/10.1182/blood-2015-11-679902
Published: 2016
Includes: Supplemental data
Journal Articles

Impairment of IL-17 Immunity to Candida and IFN-g Immunity to Mycobacterium in Humans with Bi-Allelic Rorc mutations

Satoshi Okada, MD PhD, Janet Markle, PhD, Masao Kobayashi, MD PhD, Jacinta Bustamante, MD PhD, Jean-Laurent Casanova, MD PhD
Journal: Blood
Blood (2015) 126 (23): 205.
https://doi.org/10.1182/blood.V126.23.205.205
Published: 2015
Journal Articles

STAT1 Gain-of-Function in Patients with Chronic Mucocutaneous Candidiasis Can be Detected By the Excessive Phosphorylation of STAT1 in Peripheral Blood Monocytes

Yoko Mizoguchi, MD PhD, Miyuki Tsumura, PhD, Satoshi Okada, MD PhD, Osamu Hirata, MD PhD, Shizuko Minegishi, Nobuyuki Hyakuna, MD PhD, Jean-Laurent Casanova, MD PhD, Tomohiro Morio, MD PhD, Masao Kobayashi, MD PhD
Journal: Blood
Blood (2014) 124 (21): 4111.
https://doi.org/10.1182/blood.V124.21.4111.4111
Published: 2014
Journal Articles

IRAK-4 and MyD88 deficiencies impair IgM responses against T-independent bacterial antigens

Paul J. Maglione, Noa Simchoni, Samuel Black, Lin Radigan, Jessica R. Overbey, Emilia Bagiella, James B. Bussel, Xavier Bossuyt, Jean-Laurent Casanova, Isabelle Meyts, Andrea Cerutti, Capucine Picard, Charlotte Cunningham-Rundles
Journal: Blood
Blood (2014) 124 (24): 3561–3571.
https://doi.org/10.1182/blood-2014-07-587824
Published: 2014
Includes: Supplemental data
Journal Articles

Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8 K108E mutation

Sandra Salem, David Langlais, François Lefebvre, Guillaume Bourque, Venetia Bigley, Muzz Haniffa, Jean-Laurent Casanova, David Burk, Albert Berghuis, Karina M. Butler, Timothy Ronan Leahy, Sophie Hambleton, Philippe Gros
Journal: Blood
Blood (2014) 124 (12): 1894–1904.
https://doi.org/10.1182/blood-2014-04-570879
Published: 2014
Includes: Supplemental data
Journal Articles

IL-21 signalling via STAT3 primes human naïve B cells to respond to IL-2 to enhance their differentiation into plasmablasts

Lucinda J. Berglund, Danielle T. Avery, Cindy S. Ma, Leen Moens, Elissa K. Deenick, Jacinta Bustamante, Stephanie Boisson-Dupuis, Melanie Wong, Stephen Adelstein, Peter D. Arkwright, Rosa Bacchetta, Liliana Bezrodnik, Harjit Dadi, Chaim M. Roifman, David A. Fulcher, John B. Ziegler, Joanne M. Smart, Masao Kobayashi, Capucine Picard, Anne Durandy, Matthew C. Cook, Jean-Laurent Casanova, Gulbu Uzel, Stuart G. Tangye
Journal: Blood
Blood (2013) 122 (24): 3940–3950.
https://doi.org/10.1182/blood-2013-06-506865
Published: 2013
Journal Articles

A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency

Bénédicte Neven, Emilie Mamessier, Julie Bruneau, Sophie Kaltenbach, Daniel Kotlarz, Felipe Suarez, Julien Masliah-Planchon, Katy Billot, Danielle Canioni, Pierre Frange, Isabelle Radford-Weiss, Vahid Asnafi, Dhaarini Murugan, Christine Bole, Patrick Nitschke, Olivier Goulet, Jean-Laurent Casanova, Stéphane Blanche, Capucine Picard, Olivier Hermine, Frederic Rieux-Laucat, Nicole Brousse, Frederic Davi, Véronique Baud, Christoph Klein, Bertrand Nadel, Frank Ruemmele, Alain Fischer
Journal: Blood
Blood (2013) 122 (23): 3713–3722.
https://doi.org/10.1182/blood-2013-06-508267
Published: 2013
Includes: Supplemental data
Journal Articles

Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation

Marcela Moncada-Vélez, Rubén Martinez-Barricarte, Dusan Bogunovic, Xiao-Fei Kong, Lizbeth Blancas-Galicia, Cengiz Tirpan, Guzide Aksu, Quentin B. Vincent, Bertrand Boisson, Yuval Itan, Noé Ramírez-Alejo, Satoshi Okada, Alexandra Y. Kreins, Vanessa L. Bryant, Jose Luis Franco, Mélanie Migaud, Sara Espinosa-Padilla, Marco Yamazaki-Nakashimada, Francisco Espinosa-Rosales, Necil Kutukculer, Laurent Abel, Jacinta Bustamante, Guillaume Vogt, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis
Journal: Blood
Blood (2013) 122 (14): 2390–2401.
https://doi.org/10.1182/blood-2013-01-480814
Published: 2013
Includes: Supplemental data
Journal Articles

IL-12 receptor β1 deficiency alters in vivo T follicular helper cell response in humans

Nathalie Schmitt, Jacinta Bustamante, Laure Bourdery, Salah Eddine Bentebibel, Stephanie Boisson-Dupuis, Fran Hamlin, Mau V. Tran, Derek Blankenship, Virginia Pascual, Daniel A. Savino, Jacques Banchereau, Jean-Laurent Casanova, Hideki Ueno
Journal: Blood
Blood (2013) 121 (17): 3375–3385.
https://doi.org/10.1182/blood-2012-08-448902
Published: 2013
Includes: Supplemental data
Journal Articles

Autoantibodies against cytokines: back to human genetics

Anne Puel, Jean-Laurent Casanova
Journal: Blood
Blood (2013) 121 (8): 1246–1247.
https://doi.org/10.1182/blood-2013-01-474213
Published: 2013
Journal Articles

IgM + IgD + CD27 + B cells are markedly reduced in IRAK-4–, MyD88-, and TIRAP- but not UNC-93B–deficient patients

Sandra Weller, Mélanie Bonnet, Héloïse Delagreverie, Laura Israel, Maya Chrabieh, László Maródi, Carlos Rodriguez-Gallego, Ben-Zion Garty, Chaim Roifman, Andrew C. Issekutz, Simona Eva Zitnik, Cyrille Hoarau, Yildiz Camcioglu, Júlia Vasconcelos, Carlos Rodrigo, Peter D. Arkwright, Andrea Cerutti, Eric Meffre, Shen-Ying Zhang, Alexandre Alcais, Anne Puel, Jean-Laurent Casanova, Capucine Picard, Jean-Claude Weill, Claude-Agnès Reynaud
Journal: Blood
Blood (2012) 120 (25): 4992–5001.
https://doi.org/10.1182/blood-2012-07-440776
Published: 2012
Includes: Supplemental data