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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

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

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

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

Functional STAT3 deficiency compromises the generation of human T follicular helper cells

Cindy S. Ma, Danielle T. Avery, Anna Chan, Marcel Batten, Jacinta Bustamante, Stephanie Boisson-Dupuis, Peter D. Arkwright, Alexandra Y. Kreins, Diana Averbuch, Dan Engelhard, Klaus Magdorf, Sara S. Kilic, Yoshiyuki Minegishi, Shigeaki Nonoyama, Martyn A. French, Sharon Choo, Joanne M. Smart, Jane Peake, Melanie Wong, Paul Gray, Matthew C. Cook, David A. Fulcher, Jean-Laurent Casanova, Elissa K. Deenick, Stuart G. Tangye
Journal: Blood
Blood (2012) 119 (17): 3997–4008.
https://doi.org/10.1182/blood-2011-11-392985
Published: 2012
Includes: Supplemental data
Journal Articles

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein

Marjorie Hubeau, Flora Ngadjeua, Anne Puel, Laura Israel, Jacqueline Feinberg, Maya Chrabieh, Kiran Belani, Christine Bodemer, Isabelle Fabre, Alessandro Plebani, Stéphanie Boisson-Dupuis, Capucine Picard, Alain Fischer, Alain Israel, Laurent Abel, Michel Veron, Jean-Laurent Casanova, Fabrice Agou, Jacinta Bustamante
Journal: Blood
Blood (2011) 118 (4): 926–935.
https://doi.org/10.1182/blood-2010-10-315234
Published: 2011
Includes: Supplemental data
Journal Articles

A novel form of human STAT1 deficiency impairing early but not late responses to interferons

Xiao-Fei Kong, Michael Ciancanelli, Sami Al-Hajjar, Laia Alsina, Timothy Zumwalt, Jacinta Bustamante, Jacqueline Feinberg, Magali Audry, Carolina Prando, Vanessa Bryant, Alexandra Kreins, Dusan Bogunovic, Rabih Halwani, Xin-Xin Zhang, Laurent Abel, Damien Chaussabel, Saleh Al-Muhsen, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis
Journal: Blood
Blood (2010) 116 (26): 5895–5906.
https://doi.org/10.1182/blood-2010-04-280586
Published: 2010
Includes: Supplemental data
Journal Articles

A Variant Form of Chronic Granulomatous Disease Caused by A Mutation in the Exon 9 of CYBB Gene Revealed by A Burkholderia Cepacia Invasive Infection.

Nizar Mahlaoui, MS, MSc, Carolina Prando, Stephane Blanche, MD, PhD, Alain Fischer, MD, PhD, Jean-Laurent Casanova, MD, PhD, Jacinta Bustamante, MD, PhD
Journal: Blood
Blood (2009) 114 (22): 3593.
https://doi.org/10.1182/blood.V114.22.3593.3593
Published: 2009
Journal Articles

Essential role of nuclear factor-κB for NADPH oxidase activity in normal and anhidrotic ectodermal dysplasia leukocytes

Marcos Luengo-Blanco, Carolina Prando, Jacinta Bustamante, Walmir Cutrim Aragão-Filho, Paulo Vitor Soeiro Pereira, Jussara Rehder, Carolyn Padden, Jean-Laurent Casanova, Peter E. Newburger, Antonio Condino-Neto
Journal: Blood
Blood (2008) 112 (4): 1453–1460.
https://doi.org/10.1182/blood-2007-07-099267
Published: 2008
Includes: Supplemental data
Journal Articles

A novel form of complete IL-12/IL-23 receptor β1 deficiency with cell surface-expressed nonfunctional receptors

Claire Fieschi, Marita Bosticardo, Ludovic de Beaucoudrey, Stéphanie Boisson-Dupuis, Jacqueline Feinberg, Orchidée Filipe Santos, Jacinta Bustamante, Jacov Levy, Fabio Candotti, Jean-Laurent Casanova
Journal: Blood
Blood (2004) 104 (7): 2095–2101.
https://doi.org/10.1182/blood-2004-02-0584
Published: 2004
Includes: Supplemental data