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Aziz Bousfiha
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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

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

Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients

Clinical Trials & Observations
Monia Ouederni, Quentin B. Vincent, Pierre Frange, Fabien Touzot, Sami Scerra, Mohamed Bejaoui, Aziz Bousfiha, Yves Levy, Barbara Lisowska-Grospierre, Danielle Canioni, Julie Bruneau, Marianne Debré, Stéphane Blanche, Laurent Abel, Jean-Laurent Casanova, Alain Fischer, Capucine Picard
Journal: Blood
Blood (2011) 118 (19): 5108–5118.
https://doi.org/10.1182/blood-2011-05-352716
Published: 2011
Includes: Supplemental data