Results
|
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481.
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Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation. [electronic resource] by
- Moncada-Vélez, Marcela
- Martinez-Barricarte, Rubén
- Bogunovic, Dusan
- Kong, Xiao-Fei
- Blancas-Galicia, Lizbeth
- Tirpan, Cengiz
- Aksu, Guzide
- Vincent, Quentin B
- Boisson, Bertrand
- Itan, Yuval
- Ramírez-Alejo, Noé
- Okada, Satoshi
- Kreins, Alexandra Y
- Bryant, Vanessa L
- Franco, Jose Luis
- Migaud, Mélanie
- Espinosa-Padilla, Sara
- Yamazaki-Nakashimada, Marco
- Espinosa-Rosales, Francisco
- Kutukculer, Necil
- Abel, Laurent
- Bustamante, Jacinta
- Vogt, Guillaume
- Casanova, Jean-Laurent
- Boisson-Dupuis, Stéphanie
Producer: 20131118
In:
Blood vol. 122
Availability: No items available.
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482.
|
Systemic Human ILC Precursors Provide a Substrate for Tissue ILC Differentiation. [electronic resource] by
- Lim, Ai Ing
- Li, Yan
- Lopez-Lastra, Silvia
- Stadhouders, Ralph
- Paul, Franziska
- Casrouge, Armanda
- Serafini, Nicolas
- Puel, Anne
- Bustamante, Jacinta
- Surace, Laura
- Masse-Ranson, Guillemette
- David, Eyal
- Strick-Marchand, Helene
- Le Bourhis, Lionel
- Cocchi, Roberto
- Topazio, Davide
- Graziano, Paolo
- Muscarella, Lucia Anna
- Rogge, Lars
- Norel, Xavier
- Sallenave, Jean-Michel
- Allez, Matthieu
- Graf, Thomas
- Hendriks, Rudi W
- Casanova, Jean-Laurent
- Amit, Ido
- Yssel, Hans
- Di Santo, James P
Producer: 20170606
In:
Cell vol. 168
Availability: No items available.
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483.
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A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. [electronic resource] by
- Thomas, Sophie
- Wright, Kevin J
- Le Corre, Stéphanie
- Micalizzi, Alessia
- Romani, Marta
- Abhyankar, Avinash
- Saada, Julien
- Perrault, Isabelle
- Amiel, Jeanne
- Litzler, Julie
- Filhol, Emilie
- Elkhartoufi, Nadia
- Kwong, Mandy
- Casanova, Jean-Laurent
- Boddaert, Nathalie
- Baehr, Wolfgang
- Lyonnet, Stanislas
- Munnich, Arnold
- Burglen, Lydie
- Chassaing, Nicolas
- Encha-Ravazi, Ferechté
- Vekemans, Michel
- Gleeson, Joseph G
- Valente, Enza Maria
- Jackson, Peter K
- Drummond, Iain A
- Saunier, Sophie
- Attié-Bitach, Tania
Producer: 20140730
In:
Human mutation vol. 35
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484.
|
A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome. [electronic resource] by
- Bekhouche, Bahia
- Tourville, Aurore
- Ravichandran, Yamini
- Tacine, Rachida
- Abrami, Laurence
- Dussiot, Michael
- Khau-Dancasius, Andrea
- Boccara, Olivia
- Khirat, Meriem
- Mangeney, Marianne
- Dingli, Florent
- Loew, Damarys
- Boëda, Batiste
- Jordan, Pénélope
- Molina, Thierry Jo
- Bellon, Nathalia
- Fraitag, Sylvie
- Hadj-Rabia, Smail
- Blanche, Stéphane
- Puel, Anne
- Etienne-Manneville, Sandrine
- van der Goot, F Gisou
- Cherfils, Jacqueline
- Hermine, Olivier
- Casanova, Jean-Laurent
- Bodemer, Christine
- Smahi, Asma
- Delon, Jérôme
Producer: 20210315
In:
The Journal of allergy and clinical immunology vol. 146
Availability: No items available.
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485.
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Paracoccidioidomycosis Associated With a Heterozygous STAT4 Mutation and Impaired IFN-γ Immunity. [electronic resource] by
- Schimke, Lena F
- Hibbard, James
- Martinez-Barricarte, Ruben
- Khan, Taj Ali
- de Souza Cavalcante, Ricardo
- Borges de Oliveira Junior, Edgar
- Takahashi França, Tabata
- Iqbal, Asif
- Yamamoto, Guilherme
- Arslanian, Christina
- Feriotti, Claudia
- Costa, Tania Alves
- Bustamante, Jacinta
- Boisson-Dupuis, Stéphanie
- Casanova, Jean-Laurent
- Marzagao Barbuto, José Alexandre
- Zatz, Mayana
- Poncio Mendes, Rinaldo
- Garcia Calich, Vera Lucia
- Ochs, Hans D
- Torgerson, Troy R
- Cabral-Marques, Otávio
- Condino-Neto, Antonio
Producer: 20190325
In:
The Journal of infectious diseases vol. 216
Availability: No items available.
|
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486.
|
Age-dependent Mendelian predisposition to herpes simplex virus type 1 encephalitis in childhood. [electronic resource] by
- Abel, Laurent
- Plancoulaine, Sabine
- Jouanguy, Emmanuelle
- Zhang, Shen-Ying
- Mahfoufi, Nora
- Nicolas, Nathalie
- Sancho-Shimizu, Vanessa
- Alcaïs, Alexandre
- Guo, Yiqi
- Cardon, Annabelle
- Boucherit, Soraya
- Obach, Dorothée
- Clozel, Thomas
- Lorenzo, Lazaro
- Amsallem, Daniel
- Berquin, Patrick
- Blanc, Thierry
- Bost-Bru, Cécile
- Chabrier, Stéphane
- Chabrol, Brigitte
- Cheuret, Emmanuel
- Dulac, Olivier
- Evrard, Philippe
- Héron, Bénédicte
- Lazaro, Leila
- Mancini, Josette
- Pedespan, Jean-Michel
- Rivier, François
- Vallée, Louis
- Lebon, Pierre
- Rozenberg, Flore
- Casanova, Jean-Laurent
- Tardieu, Marc
Producer: 20101008
In:
The Journal of pediatrics vol. 157
Availability: No items available.
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487.
|
The human gene damage index as a gene-level approach to prioritizing exome variants. [electronic resource] by
- Itan, Yuval
- Shang, Lei
- Boisson, Bertrand
- Patin, Etienne
- Bolze, Alexandre
- Moncada-Vélez, Marcela
- Scott, Eric
- Ciancanelli, Michael J
- Lafaille, Fabien G
- Markle, Janet G
- Martinez-Barricarte, Ruben
- de Jong, Sarah Jill
- Kong, Xiao-Fei
- Nitschke, Patrick
- Belkadi, Aziz
- Bustamante, Jacinta
- Puel, Anne
- Boisson-Dupuis, Stéphanie
- Stenson, Peter D
- Gleeson, Joseph G
- Cooper, David N
- Quintana-Murci, Lluis
- Claverie, Jean-Michel
- Zhang, Shen-Ying
- Abel, Laurent
- Casanova, Jean-Laurent
Producer: 20160302
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 112
Availability: No items available.
|
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488.
|
Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency. [electronic resource] by
- Sologuren, Ithaisa
- Martínez-Saavedra, María Teresa
- Solé-Violán, Jordi
- de Borges de Oliveira, Edgar
- Betancor, Eva
- Casas, Inmaculada
- Oleaga-Quintas, Carmen
- Martínez-Gallo, Mónica
- Zhang, Shen-Ying
- Pestano, Jose
- Colobran, Roger
- Herrera-Ramos, Estefanía
- Pérez, Carmen
- López-Rodríguez, Marta
- Ruiz-Hernández, José Juan
- Franco, Nieves
- Ferrer, José María
- Bilbao, Cristina
- Andújar-Sánchez, Miguel
- Álvarez Fernández, Mercedes
- Ciancanelli, Michael J
- Rodríguez de Castro, Felipe
- Casanova, Jean-Laurent
- Bustamante, Jacinta
- Rodríguez-Gallego, Carlos
Producer: 20191014
In:
Journal of clinical immunology vol. 38
Availability: No items available.
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489.
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DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice. [electronic resource] by
- Randall, Katrina L
- Chan, Stephanie S-Y
- Ma, Cindy S
- Fung, Ivan
- Mei, Yan
- Yabas, Mehmet
- Tan, Andy
- Arkwright, Peter D
- Al Suwairi, Wafaa
- Lugo Reyes, Saul Oswaldo
- Yamazaki-Nakashimada, Marco A
- Garcia-Cruz, Maria de la Luz
- Smart, Joanne M
- Picard, Capucine
- Okada, Satoshi
- Jouanguy, Emmanuelle
- Casanova, Jean-Laurent
- Lambe, Teresa
- Cornall, Richard J
- Russell, Sarah
- Oliaro, Jane
- Tangye, Stuart G
- Bertram, Edward M
- Goodnow, Christopher C
Producer: 20120103
In:
The Journal of experimental medicine vol. 208
Availability: No items available.
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490.
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STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function. [electronic resource] by
- Wilson, Robert P
- Ives, Megan L
- Rao, Geetha
- Lau, Anthony
- Payne, Kathryn
- Kobayashi, Masao
- Arkwright, Peter D
- Peake, Jane
- Wong, Melanie
- Adelstein, Stephen
- Smart, Joanne M
- French, Martyn A
- Fulcher, David A
- Picard, Capucine
- Bustamante, Jacinta
- Boisson-Dupuis, Stephanie
- Gray, Paul
- Stepensky, Polina
- Warnatz, Klaus
- Freeman, Alexandra F
- Rossjohn, Jamie
- McCluskey, James
- Holland, Steven M
- Casanova, Jean-Laurent
- Uzel, Gulbu
- Ma, Cindy S
- Tangye, Stuart G
- Deenick, Elissa K
Producer: 20150810
In:
The Journal of experimental medicine vol. 212
Availability: No items available.
|
|
|
491.
|
Recurrent rhinovirus infections in a child with inherited MDA5 deficiency. [electronic resource] by
- Lamborn, Ian T
- Jing, Huie
- Zhang, Yu
- Drutman, Scott B
- Abbott, Jordan K
- Munir, Shirin
- Bade, Sangeeta
- Murdock, Heardley M
- Santos, Celia P
- Brock, Linda G
- Masutani, Evan
- Fordjour, Emmanuel Y
- McElwee, Joshua J
- Hughes, Jason D
- Nichols, Dave P
- Belkadi, Aziz
- Oler, Andrew J
- Happel, Corinne S
- Matthews, Helen F
- Abel, Laurent
- Collins, Peter L
- Subbarao, Kanta
- Gelfand, Erwin W
- Ciancanelli, Michael J
- Casanova, Jean-Laurent
- Su, Helen C
Producer: 20171006
In:
The Journal of experimental medicine vol. 214
Availability: No items available.
|
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492.
|
ZNF341 controls STAT3 expression and thereby immunocompetence. [electronic resource] by
- Frey-Jakobs, Stefanie
- Hartberger, Julia M
- Fliegauf, Manfred
- Bossen, Claudia
- Wehmeyer, Magdalena L
- Neubauer, Johanna C
- Bulashevska, Alla
- Proietti, Michele
- Fröbel, Philipp
- Nöltner, Christina
- Yang, Linlin
- Rojas-Restrepo, Jessica
- Langer, Niko
- Winzer, Sandra
- Engelhardt, Karin R
- Glocker, Cristina
- Pfeifer, Dietmar
- Klein, Adi
- Schäffer, Alejandro A
- Lagovsky, Irina
- Lachover-Roth, Idit
- Béziat, Vivien
- Puel, Anne
- Casanova, Jean-Laurent
- Fleckenstein, Bernhard
- Weidinger, Stephan
- Kilic, Sara S
- Garty, Ben-Zion
- Etzioni, Amos
- Grimbacher, Bodo
Producer: 20190403
In:
Science immunology vol. 3
Availability: No items available.
|
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493.
|
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. [electronic resource] by
- Boisson, Bertrand
- Laplantine, Emmanuel
- Prando, Carolina
- Giliani, Silvia
- Israelsson, Elisabeth
- Xu, Zhaohui
- Abhyankar, Avinash
- Israël, Laura
- Trevejo-Nunez, Giraldina
- Bogunovic, Dusan
- Cepika, Alma-Martina
- MacDuff, Donna
- Chrabieh, Maya
- Hubeau, Marjorie
- Bajolle, Fanny
- Debré, Marianne
- Mazzolari, Evelina
- Vairo, Donatella
- Agou, Fabrice
- Virgin, Herbert W
- Bossuyt, Xavier
- Rambaud, Caroline
- Facchetti, Fabio
- Bonnet, Damien
- Quartier, Pierre
- Fournet, Jean-Christophe
- Pascual, Virginia
- Chaussabel, Damien
- Notarangelo, Luigi D
- Puel, Anne
- Israël, Alain
- Casanova, Jean-Laurent
- Picard, Capucine
Producer: 20130117
In:
Nature immunology vol. 13
Availability: No items available.
|
|
|
494.
|
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. [electronic resource] by
- Bustamante, Jacinta
- Arias, Andres A
- Vogt, Guillaume
- Picard, Capucine
- Galicia, Lizbeth Blancas
- Prando, Carolina
- Grant, Audrey V
- Marchal, Christophe C
- Hubeau, Marjorie
- Chapgier, Ariane
- de Beaucoudrey, Ludovic
- Puel, Anne
- Feinberg, Jacqueline
- Valinetz, Ethan
- Jannière, Lucile
- Besse, Céline
- Boland, Anne
- Brisseau, Jean-Marie
- Blanche, Stéphane
- Lortholary, Olivier
- Fieschi, Claire
- Emile, Jean-François
- Boisson-Dupuis, Stéphanie
- Al-Muhsen, Saleh
- Woda, Bruce
- Newburger, Peter E
- Condino-Neto, Antonio
- Dinauer, Mary C
- Abel, Laurent
- Casanova, Jean-Laurent
Producer: 20110415
In:
Nature immunology vol. 12
Availability: No items available.
|
|
|
495.
|
Inherited human IFN-γ deficiency underlies mycobacterial disease. [electronic resource] by
- Kerner, Gaspard
- Rosain, Jérémie
- Guérin, Antoine
- Al-Khabaz, Ahmad
- Oleaga-Quintas, Carmen
- Rapaport, Franck
- Massaad, Michel J
- Ding, Jing-Ya
- Khan, Taushif
- Ali, Fatima Al
- Rahman, Mahbuba
- Deswarte, Caroline
- Martinez-Barricarte, Rubén
- Geha, Raif S
- Jeanne-Julien, Valentine
- Garcia, Diane
- Chi, Chih-Yu
- Yang, Rui
- Roynard, Manon
- Fleckenstein, Bernhard
- Rozenberg, Flore
- Boisson-Dupuis, Stéphanie
- Ku, Cheng-Lung
- Seeleuthner, Yoann
- Béziat, Vivien
- Marr, Nico
- Abel, Laurent
- Al-Herz, Waleed
- Casanova, Jean-Laurent
- Bustamante, Jacinta
Producer: 20210202
In:
The Journal of clinical investigation vol. 130
Availability: No items available.
|
|
|
496.
|
Pyogenic bacterial infections in humans with IRAK-4 deficiency. [electronic resource] by
- Picard, Capucine
- Puel, Anne
- Bonnet, Marion
- Ku, Cheng-Lung
- Bustamante, Jacinta
- Yang, Kun
- Soudais, Claire
- Dupuis, Stéphanie
- Feinberg, Jacqueline
- Fieschi, Claire
- Elbim, Carole
- Hitchcock, Remi
- Lammas, David
- Davies, Graham
- Al-Ghonaium, Abdulaziz
- Al-Rayes, Hassan
- Al-Jumaah, Sulaiman
- Al-Hajjar, Sami
- Al-Mohsen, Ibrahim Zaid
- Frayha, Husn H
- Rucker, Rajivi
- Hawn, Thomas R
- Aderem, Alan
- Tufenkeji, Haysam
- Haraguchi, Soichi
- Day, Noorbibi K
- Good, Robert A
- Gougerot-Pocidalo, Marie-Anne
- Ozinsky, Adrian
- Casanova, Jean-Laurent
Producer: 20030421
In:
Science (New York, N.Y.) vol. 299
Availability: No items available.
|
|
|
497.
|
Deep dermatophytosis and inherited CARD9 deficiency. [electronic resource] by
- Lanternier, Fanny
- Pathan, Saad
- Vincent, Quentin B
- Liu, Luyan
- Cypowyj, Sophie
- Prando, Carolina
- Migaud, Mélanie
- Taibi, Lynda
- Ammar-Khodja, Aomar
- Stambouli, Omar Boudghene
- Guellil, Boumediene
- Jacobs, Frederique
- Goffard, Jean-Christophe
- Schepers, Kinda
- Del Marmol, Véronique
- Boussofara, Lobna
- Denguezli, Mohamed
- Larif, Molka
- Bachelez, Hervé
- Michel, Laurence
- Lefranc, Gérard
- Hay, Rod
- Jouvion, Gregory
- Chretien, Fabrice
- Fraitag, Sylvie
- Bougnoux, Marie-Elisabeth
- Boudia, Merad
- Abel, Laurent
- Lortholary, Olivier
- Casanova, Jean-Laurent
- Picard, Capucine
- Grimbacher, Bodo
- Puel, Anne
Producer: 20131107
In:
The New England journal of medicine vol. 369
Availability: No items available.
|
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498.
|
Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients. [electronic resource] by
- Pillay, Bethany A
- Avery, Danielle T
- Smart, Joanne M
- Cole, Theresa
- Choo, Sharon
- Chan, Damien
- Gray, Paul E
- Frith, Katie
- Mitchell, Richard
- Phan, Tri Giang
- Wong, Melanie
- Campbell, Dianne E
- Hsu, Peter
- Ziegler, John B
- Peake, Jane
- Alvaro, Frank
- Picard, Capucine
- Bustamante, Jacinta
- Neven, Benedicte
- Cant, Andrew J
- Uzel, Gulbu
- Arkwright, Peter D
- Casanova, Jean-Laurent
- Su, Helen C
- Freeman, Alexandra F
- Shah, Nirali
- Hickstein, Dennis D
- Tangye, Stuart G
- Ma, Cindy S
Producer: 20201015
In:
JCI insight vol. 5
Availability: No items available.
|
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|
499.
|
PAX1 is essential for development and function of the human thymus. [electronic resource] by
- Yamazaki, Yasuhiro
- Urrutia, Raul
- Franco, Luis M
- Giliani, Silvia
- Zhang, Kejian
- Alazami, Anas M
- Dobbs, A Kerry
- Masneri, Stefania
- Joshi, Avni
- Otaizo-Carrasquero, Francisco
- Myers, Timothy G
- Ganesan, Sundar
- Bondioni, Maria Pia
- Ho, Mai Lan
- Marks, Catherine
- Alajlan, Huda
- Mohammed, Reem W
- Zou, Fanggeng
- Valencia, C Alexander
- Filipovich, Alexandra H
- Facchetti, Fabio
- Boisson, Bertrand
- Azzari, Chiara
- Al-Saud, Bander K
- Al-Mousa, Hamoud
- Casanova, Jean Laurent
- Abraham, Roshini S
- Notarangelo, Luigi D
Producer: 20201204
In:
Science immunology vol. 5
Availability: No items available.
|
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500.
|
TLR3 deficiency in patients with herpes simplex encephalitis. [electronic resource] by
- Zhang, Shen-Ying
- Jouanguy, Emmanuelle
- Ugolini, Sophie
- Smahi, Asma
- Elain, Gaëlle
- Romero, Pedro
- Segal, David
- Sancho-Shimizu, Vanessa
- Lorenzo, Lazaro
- Puel, Anne
- Picard, Capucine
- Chapgier, Ariane
- Plancoulaine, Sabine
- Titeux, Matthias
- Cognet, Céline
- von Bernuth, Horst
- Ku, Cheng-Lung
- Casrouge, Armanda
- Zhang, Xin-Xin
- Barreiro, Luis
- Leonard, Joshua
- Hamilton, Claire
- Lebon, Pierre
- Héron, Bénédicte
- Vallée, Louis
- Quintana-Murci, Lluis
- Hovnanian, Alain
- Rozenberg, Flore
- Vivier, Eric
- Geissmann, Frédéric
- Tardieu, Marc
- Abel, Laurent
- Casanova, Jean-Laurent
Producer: 20071001
In:
Science (New York, N.Y.) vol. 317
Availability: No items available.
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