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Silvia Giliani
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Journal Articles

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

In Special Collection:
Inborn Errors of Immunity 2019
Nicholas Hernandez, Isabelle Melki, Huie Jing, Tanwir Habib, Susie S.Y. Huang, Jeffrey Danielson, Tomasz Kula, Scott Drutman, Serkan Belkaya, Vimel Rattina, Lazaro Lorenzo-Diaz, Anais Boulai, Yoann Rose, Naoki Kitabayashi, Mathieu P. Rodero, Cecile Dumaine, Stéphane Blanche, Marie-Noëlle Lebras, Man Chun Leung, Lisa Sara Mathew, Bertrand Boisson, Shen-Ying Zhang, Stephanie Boisson-Dupuis, Silvia Giliani, Damien Chaussabel, Luigi D. Notarangelo, Stephen J. Elledge, Michael J. Ciancanelli, Laurent Abel, Qian Zhang, Nico Marr, Yanick J. Crow, Helen C. Su, Jean-Laurent Casanova
Journal: Journal of Experimental Medicine
J Exp Med (2018) 215 (10): 2567–2585.
https://doi.org/10.1084/jem.20180628
Published: 24 August 2018
View articletitled, Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency
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Includes: Supplementary data
Journal Articles

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

Stefano Volpi, Yasuhiro Yamazaki, Patrick M. Brauer, Ellen van Rooijen, Atsuko Hayashida, Anne Slavotinek, Hye Sun Kuehn, Maja Di Rocco, Carlo Rivolta, Ileana Bortolomai, Likun Du, Kerstin Felgentreff, Lisa Ott de Bruin, Kazutaka Hayashida, George Freedman, Genni Enza Marcovecchio, Kelly Capuder, Prisni Rath, Nicole Luche, Elliott J. Hagedorn, Antonella Buoncompagni, Beryl Royer-Bertrand, Silvia Giliani, Pietro Luigi Poliani, Luisa Imberti, Kerry Dobbs, Fabienne E. Poulain, Alberto Martini, John Manis, Robert J. Linhardt, Marita Bosticardo, Sergio Damian Rosenzweig, Hane Lee, Jennifer M. Puck, Juan Carlos Zúñiga-Pflücker, Leonard Zon, Pyong Woo Park, Andrea Superti-Furga, Luigi D. Notarangelo
Journal: Journal of Experimental Medicine
J Exp Med (2017) 214 (3): 623–637.
https://doi.org/10.1084/jem.20161525
Published: 01 February 2017
View articletitled, EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay
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Includes: Supplementary data
Journal Articles

Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus

Umaimainthan Palendira, Carol Low, Andrew I. Bell, Cindy S. Ma, Rachel J.M. Abbott, Tri Giang Phan, D. Sean Riminton, Sharon Choo, Joanne M. Smart, Vassilios Lougaris, Silvia Giliani, Rebecca H. Buckley, Bodo Grimbacher, Frank Alvaro, Amy D. Klion, Kim E. Nichols, Stephen Adelstein, Alan B. Rickinson, Stuart G. Tangye
Journal: Journal of Experimental Medicine
J Exp Med (2012) 209 (5): 913–924.
https://doi.org/10.1084/jem.20112391
Published: 09 April 2012
View articletitled, Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus
Open the PDF for Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus in another window
Journal Articles

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

Gaetana Lanzi, Daniele Moratto, Donatella Vairo, Stefania Masneri, Ottavia Delmonte, Tiziana Paganini, Silvia Parolini, Giovanna Tabellini, Cinzia Mazza, Gianfranco Savoldi, Davide Montin, Silvana Martino, Pierangelo Tovo, Itai M. Pessach, Michel J. Massaad, Narayanaswamy Ramesh, Fulvio Porta, Alessandro Plebani, Luigi D. Notarangelo, Raif S. Geha, Silvia Giliani
Journal: Journal of Experimental Medicine
J Exp Med (2012) 209 (1): 29–34.
https://doi.org/10.1084/jem.20110896
Published: 09 January 2012
View articletitled, A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP
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Includes: Supplementary data
Journal Articles

Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency

Jolan E. Walter, Francesca Rucci, Laura Patrizi, Mike Recher, Stephan Regenass, Tiziana Paganini, Marton Keszei, Itai Pessach, Philipp A. Lang, Pietro Luigi Poliani, Silvia Giliani, Waleed Al-Herz, Morton J. Cowan, Jennifer M. Puck, Jack Bleesing, Tim Niehues, Catharina Schuetz, Harry Malech, Suk See DeRavin, Fabio Facchetti, Andrew R. Gennery, Emma Andersson, Naynesh R. Kamani, JoAnn Sekiguchi, Hamid M. Alenezi, Javier Chinen, Ghassan Dbaibo, Gehad ElGhazali, Adriano Fontana, Srdjan Pasic, Cynthia Detre, Cox Terhorst, Frederick W. Alt, Luigi D. Notarangelo
Journal: Journal of Experimental Medicine
J Exp Med (2010) 207 (7): 1541–1554.
https://doi.org/10.1084/jem.20091927
Published: 14 June 2010
View articletitled, Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency
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Includes: Supplementary data
Journal Articles

X-Linked Lymphoproliferative Disease: 2b4 Molecules Displaying Inhibitory Rather than Activating Function Are Responsible for the Inability of Natural Killer Cells to Kill Epstein-Barr Virus–Infected Cells

Silvia Parolini, Cristina Bottino, Michela Falco, Raffaella Augugliaro, Silvia Giliani, Roberta Franceschini, Hans D. Ochs, Hermann Wolf, Jean-Yves Bonnefoy, Roberto Biassoni, Lorenzo Moretta, Luigi D. Notarangelo, Alessandro Moretta
Journal: Journal of Experimental Medicine
J Exp Med (2000) 192 (3): 337–346.
https://doi.org/10.1084/jem.192.3.337
Published: 31 July 2000
View articletitled, X-Linked Lymphoproliferative Disease: 2b4 Molecules Displaying Inhibitory Rather than Activating Function Are Responsible for the Inability of Natural Killer Cells to Kill Epstein-Barr Virus–Infected Cells
Open the PDF for X-Linked Lymphoproliferative Disease: 2b4 Molecules Displaying Inhibitory Rather than Activating Function Are Responsible for the Inability of Natural Killer Cells to Kill Epstein-Barr Virus–Infected Cells in another window