BetterScholar BetterScholar
11
Role
Title
Level Year L/R
🐜 Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
66 auth. Luyan Liu, S. Okada, X. Kong, A. Kreins, Sophie Cypowyj, A. Abhyankar, J. Toubiana, Y. Itan, Magali Audry, P. Nitschké, C. Masson, B. Tóth, Jérôme Flatot, M. Migaud, M. Chrabieh, ... Tatiana Kochetkov, A. Bolze, A. Borghesi, A. Toulon, J. Hiller, S. Eyerich, K. Eyerich, Vera Gulácsy, L. Chernyshova, V. Chernyshov, Anastasia Bondarenko, Rosa María Cortés Grimaldo, L. Blancas-Galicia, Ileana María Madrigal Beas, J. Roesler, K. Magdorf, D. Engelhard, C. Thumerelle, P. Burgel, M. Hoernes, Barbara Drexel, R. Seger, T. Kusuma, A. Jansson, J. Sawalle-Belohradsky, B. Belohradsky, E. Jouanguy, J. Bustamante, M. Bué, N. Karin, G. Wildbaum, C. Bodemer, O. Lortholary, A. Fischer, S. Blanche, S. Al‐Muhsen, J. Reichenbach, Masao Kobayashi, F. Rosales, C. Lozano, S. Kilic, M. Oleastro, Amos Etzioni, C. Traidl‐Hoffmann, E. Renner, L. Abel, C. Picard, L. Maródi, S. Boisson-Dupuis, A. Puel, J. Casanova
9 2011
9
🐜
🐜 IRF8 mutations and human dendritic-cell immunodeficiency.
38 auth. S. Hambleton, Sandra Salem, J. Bustamante, V. Bigley, S. Boisson-Dupuis, Joana Azevedo, A. Fortin, M. Haniffa, L. Ceron-Gutierrez, C. Bacon, G. Menon, Céline Trouillet, David McDonald, P. Carey, F. Ginhoux, ... L. Alsina, Timothy J. Zumwalt, X. Kong, D. Kumararatne, K. Butler, Marjorie Hubeau, J. Feinberg, S. Al‐Muhsen, A. Cant, L. Abel, D. Chaussabel, R. Doffinger, E. Talesnik, A. Grumach, A. Duarte, K. Abarca, D. Moraes-Vasconcelos, D. Burk, A. Berghuis, F. Geissmann, M. Collin, J. Casanova, P. Gros
9 2011
9
🐜
🐜 Mycobacterial Disease and Impaired IFN-γ Immunity in Humans with Inherited ISG15 Deficiency
32 auth. D. Bogunovic, Minji Byun, L. Durfee, A. Abhyankar, O. Sanal, D. Mansouri, Sandra Salem, Irena Radovanovic, A. Grant, P. Adimi, N. Mansouri, S. Okada, V. Bryant, X. Kong, A. Kreins, ... Marcela Moncada Velez, B. Boisson, S. Khalilzadeh, U. Ozcelik, I. Darazam, J. Schoggins, C. Rice, S. Al‐Muhsen, M. Behr, G. Vogt, A. Puel, J. Bustamante, P. Gros, J. Huibregtse, L. Abel, S. Boisson-Dupuis, J. Casanova
8 2012
8
🐜
🐜 Revisiting Human IL-12R&bgr;1 Deficiency: A Survey of 141 Patients From 30 Countries
122 auth. Ludovic de Beaucoudrey, A. Samarina, J. Bustamante, A. Cobat, S. Boisson-Dupuis, J. Feinberg, S. Al‐Muhsen, L. Jannière, Yoann Rose, Maylis de Suremain, X. Kong, O. Filipe-santos, A. Chapgier, C. Picard, A. Fischer, ... F. Doğu, A. Ikinciogulları, G. Tanır, Sami Al-Hajjar, S. Al-Jumaah, H. Frayha, Z. Alsum, Sulaiman Alajaji, Abdullah A. Alangari, A. Al-ghonaium, P. Adimi, D. Mansouri, I. Ben‐Mustapha, Judith Yancoski, B. Garty, C. Rodríguez-Gallego, I. Caragol, N. Kutukculer, D. Kumararatne, Smita Y. Patel, R. Doffinger, A. Exley, O. Jeppsson, J. Reichenbach, D. Nadal, Yaryna Boyko, B. Pietrucha, S. Anderson, M. Levin, L. Schandené, K. Schepers, A. Efira, F. Mascart, M. Matsuoka, T. Sakai, C. Siegrist, K. Frecerova, Renate Blüetters-Sawatzki, J. Bernhöft, J. Freihorst, U. Baumann, D. Richter, F. Haerynck, F. De Baets, V. Novelli, D. Lammas, C. Vermylen, D. Tuerlinckx, C. Nieuwhof, M. Pac, W. H. Haas, I. Müller-Fleckenstein, B. Fleckenstein, Jacob Levy, Revathi Raj, A. Cohen, D. Lewis, S. Holland, Kuender D Yang, Xiaochuan Wang, Xiaohong Wang, Liping Jiang, Xi-qiang Yang, Chao-min Zhu, Yuanyuan Xie, P. Lee, Koon-wing Chan, Tong-Xin Chen, G. Castro, Ivelisse Natera, A. Codoceo, A. King, L. Bezrodnik, Daniela Di Giovani, M. Gaillard, D. de Moraes-Vasconcelos, A. Grumach, A. J. da Silva Duarte, Ruth Aldana, F. Espinosa-Rosales, M. Bejaoui, A. Bousfiha, J. E. Baghdadi, N. Ozbek, G. Aksu, M. Keser, A. Somer, N. Hatipoğlu, Ç. Aydoğmuş, S. Asilsoy, Y. Camcıoğlu, S. Gülle, T. Ozgur, M. Ozen, M. Oleastro, A. Bernasconi, S. Mamishi, N. Parvaneh, S. Rosenzweig, R. Barbouche, S. Pedraza, Y. Lau, Mohammad S. Ehlayel, C. Fieschi, L. Abel, O. Sanal, J. Casanova
8 2010
8
🐜
🐜 Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
54 auth. A. Kreins, Michael J. Ciancanelli, S. Okada, X. Kong, Noé Ramírez-Alejo, S. Kilic, J. El Baghdadi, S. Nonoyama, S. Mahdaviani, F. Ailal, A. Bousfiha, D. Mansouri, E. Nievas, Cindy S. Ma, Geetha Rao, ... A. Bernasconi, Hye Sun Kuehn, J. Niemela, J. Stoddard, P. Deveau, A. Cobat, S. El Azbaoui, A. Sabri, C. Lim, M. Sundin, D. Avery, R. Halwani, A. Grant, B. Boisson, D. Bogunovic, Y. Itan, M. Moncada-Vélez, Ruben Martinez-Barricarte, M. Migaud, C. Deswarte, L. Alsina, D. Kotlarz, C. Klein, I. Muller-Fleckenstein, B. Fleckenstein, V. Cormier-Daire, S. Rose-John, C. Picard, Lennart Hammarstrom, A. Puel, S. Al‐Muhsen, L. Abel, D. Chaussabel, S. Rosenzweig, Y. Minegishi, S. Tangye, J. Bustamante, J. Casanova, S. Boisson-Dupuis
8 2015
8
🐜
🐜 Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes
7 auth. S. Boisson-Dupuis, X. Kong, S. Okada, Sophie Cypowyj, A. Puel, L. Abel, ... J. Casanova
8 2012
8
🐜
🐜 The human gene damage index as a gene-level approach to prioritizing exome variants
26 auth. Y. Itan, Lei Shang, B. Boisson, E. Patin, A. Bolze, M. Moncada-Vélez, Eric M. Scott, Michael J. Ciancanelli, Fabien G. Lafaille, J. Markle, Ruben Martinez-Barricarte, S. J. de Jong, X. Kong, P. Nitschké, Aziz Belkadi, ... J. Bustamante, A. Puel, S. Boisson-Dupuis, P. Stenson, J. Gleeson, D. Cooper, L. Quintana-Murci, J. Claverie, Shen-Ying Zhang, L. Abel, J. Casanova
7 2015
7
🐜
🐜 A partial form of recessive STAT1 deficiency in humans.
15 auth. A. Chapgier, X. Kong, S. Boisson-Dupuis, E. Jouanguy, D. Averbuch, J. Feinberg, Shen-Ying Zhang, J. Bustamante, G. Vogt, J. Lejeune, ... Eléonore Mayola, Ludovic de Beaucoudrey, L. Abel, D. Engelhard, J. Casanova
7 2009
7
🐜
🐜 Mendelian susceptibility to mycobacterial disease: 2014–2018 update
10 auth. J. Rosain, X. Kong, Ruben Martinez-Barricarte, Carmen Oleaga-Quintas, Noé Ramírez-Alejo, J. Markle, ... S. Okada, S. Boisson-Dupuis, J. Casanova, J. Bustamante
7 2018
7
🐜
🐜 Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23
53 auth. Ruben Martinez-Barricarte, J. Markle, Cindy S. Ma, E. Deenick, Noé Ramírez-Alejo, F. Mele, Daniela Latorre, S. Mahdaviani, C. Aytekin, D. Mansouri, V. Bryant, F. Jabot-Hanin, C. Deswarte, A. Nieto-Patlán, Laura Surace, ... Gaspard Kerner, Y. Itan, S. Jovic, D. Avery, Natalie Wong, Geetha Rao, E. Patin, S. Okada, Benedetta Bigio, B. Boisson, Franck Rapaport, Y. Seeleuthner, Monika Schmidt, A. Ikinciogulları, F. Doğu, G. Tanır, P. Tabarsi, Mohammed Reza Bloursaz, Julia K Joseph, Avneet Heer, X. Kong, M. Migaud, T. Lazarov, F. Geissmann, B. Fleckenstein, C. L. Arlehamn, A. Sette, A. Puel, J. Emile, E. van de Vosse, L. Quintana-Murci, J. D. Di Santo, L. Abel, S. Boisson-Dupuis, J. Bustamante, S. Tangye, F. Sallusto, J. Casanova
7 2018
7
🐜
🦁 A novel form of human STAT1 deficiency impairing early but not late responses to interferons.
19 auth. X. Kong, Michael J. Ciancanelli, Sami Al-Hajjar, L. Alsina, Timothy J. Zumwalt, J. Bustamante, J. Feinberg, Magali Audry, Carolina Prando, V. Bryant, ... A. Kreins, D. Bogunovic, R. Halwani, Xin-Xin Zhang, L. Abel, D. Chaussabel, S. Al‐Muhsen, J. Casanova, S. Boisson-Dupuis
6 2010
6
🦁