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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

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
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