Search Results - Maya Chrabieh

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  1. 1
    Recurrent Staphylococcal Cellulitis and Subcutaneous Abscesses in a Child with Autoantibodies against IL-6

    Recurrent Staphylococcal Cellulitis and Subcutaneous Abscesses in a Child with Autoantibodies against IL-6 by Anne Puel, Capucine Pïcard, Mathie Lorrot, Christine N. Pons, Maya Chrabieh, Lazaro Lorenzo, Maria Mamani‐Matsuda, Emmanuelle Jouanguy, D Gendrel, Jean‐Laurent Casanova

    Published 2008
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  2. 2
    Heterozygous Mutations in MAP3K7 , Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome

    Heterozygous Mutations in MAP3K7 , Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome by Carine Le Goff, Curtis Rogers, Wilfried Le Goff, Graziella Pinto, Damien Bonnet, Maya Chrabieh, Olivier Alibeu, Patrick Nistchke, Arnold Münnich, Capucine Pïcard, Valérie Cormier‐Daire

    Published 2016
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  3. 3
    New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein

    New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein by Marjorie Hubeau, Flora Ngadjeua, Anne Puel, Laura Israël, Jacqueline Feinberg, Maya Chrabieh, Kiran Belani, Christine Bodemer, Isabelle Fabre, Alessandro Plebani, Stéphanie Boisson‐Dupuis, Capucine Pïcard, Alain Fischer, Alain Israël, Laurent Abel, Michel Véron, Jean‐Laurent Casanova, Fabrice Agou, Jacinta Bustamante

    Published 2011
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  4. 4
    Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

    Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia by Bertrand Boisson, Emmanuel Laplantine, Kerry Dobbs, Aurélie Cobat, Nadine Tarantino, Melissa M. Hazen, Hart G.W. Lidov, Gregory Hopkins, Likun Du, Aziz Belkadi, Maya Chrabieh, Yuval Itan, Capucine Pïcard, Jean‐Christophe Fournet, Hermann Eibel, Erdyni N. Tsitsikov, Sung‐Yun Pai, Laurent Abel, Waleed Al‐Herz, Jean‐Laurent Casanova, Alain Israël, Luigi D. Notarangelo

    Published 2015
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  5. 5
    Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity

    Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity by Anne Puel, Sophie Cypowyj, Jacinta Bustamante, Jill F. Wright, Luyan Liu, Hye Kyung Lim, Mélanie Migaud, Laura Israël, Maya Chrabieh, Magali Audry, Matthew Gumbleton, A. Toulon, Christine Bodemer, Jamila El Baghdadi, Matthew J. Whitters, Theresa Paradis, Jonathan Brooks, Mary Collins, Neil M. Wolfman, Saleh Al‐Muhsen, Miguel Galicchio, Laurent Abel, Capucine Pïcard, Jean‐Laurent Casanova

    Published 2011
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  6. 6
    Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts

    Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts by Erika Della Mina, A. Borghesi, Hao Zhou, Salim Bougarn, Sabri Boughorbel, Laura Israël, Ilaria Meloni, Maya Chrabieh, Yun Ling, Yuval Itan, Alessandra Renieri, Iolanda Mazzucchelli, Sabrina Basso, Piero Pavone, Raffaele Falsaperla, Roberto Ciccone, Rosa Maria Cerbo, Mauro Stronati, Capucine Pïcard, Orsetta Zuffardi, Laurent Abel, Damien Chaussabel, Nico Marr, Xiaoxia Li, Jean‐Laurent Casanova, Anne Puel

    Published 2017
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  7. 7
    Rescue of recurrent deep intronic mutation underlying cell type–dependent quantitative NEMO deficiency

    Rescue of recurrent deep intronic mutation underlying cell type–dependent quantitative NEMO deficiency by Bertrand Boisson, Yoshitaka Honda, Masahiko Ajiro, Jacinta Bustamante, Matthieu Bendavid, Andrew R. Gennery, Yuri Kawasaki, Jose Ichishima, Mitsujiro Osawa, Hiroshi Nihira, Takeshi Shiba, Takayuki Tanaka, Maya Chrabieh, Benedetta Bigio, Hong Hur, Yuval Itan, Yupu Liang, Satoshi Okada, Kazushi Izawa, Ryuta Nishikomori, Osamu Ohara, Toshio Heike, Laurent Abel, Anne Puel, Megumu K. Saito, Jean‐Laurent Casanova, Masatoshi Hagiwara, Takahiro Yasumi

    Published 2018
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  8. 8
    IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4–, MyD88-, and TIRAP- but not UNC-93B–deficient patients

    IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4–, MyD88-, and TIRAP- but not UNC-93B–deficient patients by Sandra Weller, Mélanie Bonnet, Héloïse Delagrèverie, Laura Israël, Maya Chrabieh, László Maródi, Carlos Rodríguez‐Gallego, Ben-Zion Garty, Chaim M. Roifman, Andrew C. Issekutz, Simona Eva Zitnik, C. Hoarau, Yıldız Çamcıoğlu, Júlia Vasconcelos, Carlos Rodrigo, Peter D. Arkwright, Andrea Cerutti, Eric Meffre, Shen‐Ying Zhang, Alexandre Alcaïs, Anne Puel, Jean‐Laurent Casanova, Capucine Pïcard, Jean-Claude Weill, Claude‐Agnès Reynaud

    Published 2012
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  9. 9
    Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis

    Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis by Slaheddine Marrakchi, Philippe Guigue, Blair R. Renshaw, Anne Puel, Xue-Yuan Pei, Sylvie Fraïtag, Jihen Zribi, Élodie Bal, Céline Cluzeau, Maya Chrabieh, Jennifer E. Towne, Jason Douangpanya, Christian Pons, Sourour Mansour, Valérie Serre, H. Makni, Nadia Mahfoudh, Faiza Fakhfakh, Christine Bodemer, Josué Feingold, S. Hadj‐Rabia, Michel Fãvre, Emmanuelle Génin, Mourad Sahbatou, Arnold Münnich, Jean‐Laurent Casanova, John E. Sims, H. Turki, H. Bachelez, Asma Smahi

    Published 2011
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  10. 10
    Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

    Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I by Anne Puel, Rainer Döffinger, Angels Natividad, Maya Chrabieh, Gabriela Barcenas‐Morales, Capucine Pïcard, Aurélie Cobat, O Marie, A. Toulon, Jacinta Bustamante, Saleh Al‐Muhsen, Mohammed Al‐Owain, Peter D. Arkwright, Colm Costigan, Vivienne McConnell, Andrew J. Cant, Mario Abinun, Michel Polak, Pierre-François Bougnères, Dinakantha Kumararatne, László Maródi, Amit Nahum, Chaim M. Roifman, Stéphane Blanche, Alain Fischer, Christine Bodemer, Laurent Abel, Desa Lilić, Jean‐Laurent Casanova

    Published 2010
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  11. 11
    Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

    Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency by Bertrand Boisson, Emmanuel Laplantine, Carolina Prando, Silvia Giliani, Elisabeth Israelsson, Zhaohui Xu, Avinash Abhyankar, Laura Israël, Giraldina Trevejo-Nuñez, Dusan Bogunovic, Alma‐Martina Cepika, Donna A. MacDuff, Maya Chrabieh, Marjorie Hubeau, Fanny Bajolle, Marianne Debré, Evelina Mazzolari, Donatella Vairo, Fabrice Agou, Herbert W. Virgin, Xavier Bossuyt, Caroline Rambaud, Fabio Facchetti, Damien Bonnet, Pierre Quartier, Jean‐Christophe Fournet, Virginia Pascual, Damien Chaussabel, Luigi D. Notarangelo, Anne Puel, Alain Israël, Jean‐Laurent Casanova, Capucine Pïcard

    Published 2012
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  12. 12
    Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

    Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β by Juan Li, Marco Ritelli, S. Cindy, Geetha Rao, Tanwir Habib, Emilie Corvilain, Salim Bougarn, Sophie Cypowyj, Lucie Grodecká, Romain Lévy, Vivien Béziat, Lei Shang, Kathryn Payne, Danielle T. Avery, Mélanie Migaud, Soraya Boucherit, Sabri Boughorbel, Andrea Guennoun, Maya Chrabieh, Franck Rapaport, Benedetta Bigio, Yuval Itan, Bertrand Boisson, Claire Fieschi, Valérie Cormier‐Daire, Delfien Syx, Fransiska Malfait, Nicoletta Zoppi, Laurent Abel, Tomáš Freiberger, Harry C. Dietz, Nico Marr, Stuart G. Tangye, Marina Colombi, Jean‐Laurent Casanova, Anne Puel

    Published 2019
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  13. 13
    Invasive Pneumococcal Disease in Children Can Reveal a Primary Immunodeficiency

    Invasive Pneumococcal Disease in Children Can Reveal a Primary Immunodeficiency by Jean Gaschignard, Corinne Lévy, Maya Chrabieh, Bertrand Boisson, C. Bost-Bru, Stéphane Dauger, François Dubos, Philippe Durand, J. Gaudelus, D Gendrel, Christèle Gras‐Le Guen, E. Grimprel, G. Guyon, C. Jeudy, Éric Jeziorski, Francis Leclerc, Pierre-Louis Léger, Fabrice Lesage, Mathie Lorrot, Isabelle Pellier, Didier Pinquier, Loïc de Pontual, P. Sachs, Caroline Thomas, Pierre Tissières, Frédéric V. Valla, P Desprez, Véronique Frémeaux‐Bacchi, Emmanuelle Varon, Xavier Bossuyt, Robert Cohen, Laurent Abel, Jean‐Laurent Casanova, Anne Puel, Capucine Pïcard

    Published 2014
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  14. 14
    Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity

    Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity by Laura Israël, Ying Wang, Katarzyna Bulek, Erika Della Mina, Zhao Zhang, Vincent Pedergnana, Maya Chrabieh, Nicole Lemmens, Vanessa Sancho‐Shimizu, Marc Descatoire, Théo Lasseau, Elisabeth Israelsson, Lazaro Lorenzo, Yun Ling, Aziz Belkadi, Andrew E. Moran, Leonard E. Weisman, François Vandenesch, Frédéric Batteux, Sandra Weller, Michael Levin, Jethro Herberg, Avinash Abhyankar, Carolina Prando, Yuval Itan, Willem J. B. van Wamel, Capucine Pïcard, Laurent Abel, Damien Chaussabel, Xiaoxia Li, Bruce Beutler, Peter D. Arkwright, Jean‐Laurent Casanova, Anne Puel

    Published 2017
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  15. 15
    Dual T cell– and B cell–intrinsic deficiency in humans with biallelic <i>RLTPR</i> mutations

    Dual T cell– and B cell–intrinsic deficiency in humans with biallelic <i>RLTPR</i> mutations by Yi Wang, S. Cindy, Yun Ling, Aziz Bousfiha, Yıldız Çamcıoğlu, Serge Jacquot, Kathryn Payne, Elena Crestani, Romain Roncagalli, Aziz Belkadi, Gaspard Kerner, Lazaro Lorenzo, Caroline Deswarte, Maya Chrabieh, Étienne Patin, Quentin B. Vincent, Ingrid Müller‐Fleckenstein, Bernhard Fleckenstein, Fatima Ailal, Lluís Quintana‐Murci, Sylvie Fraitag, Marie‐Alexandra Alyanakian, Marianne Leruez‐Ville, Capucine Pïcard, Anne Puel, Jacinta Bustamante, Stéphanie Boisson‐Dupuis, Marie Malissen, Bernard Malissen, Laurent Abel, Alain Hovnanian, Luigi D. Notarangelo, Emmanuelle Jouanguy, Stuart G. Tangye, Vivien Béziat, Jean‐Laurent Casanova

    Published 2016
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  16. 16
    Human <i>STAT3</i> variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

    Human <i>STAT3</i> variants underlie autosomal dominant hyper-IgE syndrome by negative dominance by Takaki Asano, Joëlle Khourieh, Peng Zhang, Franck Rapaport, András N. Spaan, Juan Li, Wei‐Te Lei, Simon J. Pelham, David Hum, Maya Chrabieh, Ji Eun Han, Antoine Guérin, Joseph Mackie, Sudhir Gupta, Biman Saikia, Jamila El Baghdadi, Ilham Fadil, Aziz Bousfiha, Tanwir Habib, Nico Marr, Luckshman Ganeshanandan, Jane Peake, Luke Droney, Andrew Williams, Fatih Çelmeli, Nevin Hatipoğlu, Tayfun Özçelık, Capucine Pïcard, Laurent Abel, Stuart G. Tangye, Stéphanie Boisson‐Dupuis, Qian Zhang, Anne Puel, Vivien Béziat, Jean‐Laurent Casanova, Bertrand Boisson

    Published 2021
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  17. 17
    Pyogenic Bacterial Infections in Humans with MyD88 Deficiency

    Pyogenic Bacterial Infections in Humans with MyD88 Deficiency by Horst von Bernuth, Capucine Pïcard, Zhongbo Jin, Rungnapa Pankla, Hui Xiao, Cheng‐Lung Ku, Maya Chrabieh, Imen Ben‐Mustapha, Pegah Ghandil, Yıldız Çamcıoğlu, Júlia Vasconcelos, Nicolas Sirvent, Margarida Guedes, Artur Bonito Vítor, M. J. Herrero‐Mata, Juan I. Aróstegui, Carlos Rodrigo, Laia Alsina, Estíbaliz Ruiz‐Ortiz, Manel Juan, Clàudia Fortuny, Jordi Yagüe, Jordi Antón, Mariona Pascal, Huey-Hsuan Chang, Lucile Jannière, Y Rose, Ben-Zion Garty, Helen Chapel, Andrew C. Issekutz, László Maródi, Carlos Rodríguez‐Gallego, Jacques Banchereau, Laurent Abel, Xiaoxia Li, Damien Chaussabel, Anne Puel, Jean‐Laurent Casanova

    Published 2008
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  18. 18
    Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions

    Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions by Marta Martín-Fernández, María Bravo García‐Morato, Conor Gruber, Sara Murias Loza, Muhammad Nasir Hayat Malik, Fahad Alsohime, Abdullah Alakeel, Rita Valdéz, Sofija Buta, Guadalupe Buda, Marcelo A. Martí, Margarita Larralde, Bertrand Boisson, M. F. Prieto Rodríguez, Xueer Qiu, Maya Chrabieh, Mohammed Al Ayed, Saleh Al Muhsen, Jigar V. Desai, Elise M. N. Ferré, Sergio D. Rosenzweig, Blanca Amador-Borrero, Luz Yadira Bravo‐Gallego, Ruth Olmer, Sylvia Merkert, Montserrat Bret Zurita, Amika K. Sood, Abdulkarim Alrabiaah, Mohamad‐Hani Temsah, Rabih Halwani, Michelle Hernández, Frank Peßler, Jean‐Laurent Casanova, Jacinta Bustamante, Michail S. Lionakis, Dusan Bogunovic

    Published 2020
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  19. 19
    Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease

    Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease by Tom Le Voyer, Anna‐Lena Neehus, Rui Yang, Masato Ogishi, Jérémie Rosain, Fayhan Alroqi, Maha Alshalan, Sophie Blumental, Fatima Al Ali, Taushif Khan, Manar Ata, Laurence Rozen, Anne Demulder, Paul Bastard, Conor Gruber, Manon Roynard, Yoann Seeleuthener, Franck Rapaport, Benedetta Bigio, Maya Chrabieh, Danielle Sng, Laureline Berteloot, Nathalie Boddaert, Flore Rozenberg, Saleh Al‐Muhsen, Aida M. Bertoli‐Avella, Laurent Abel, Dusan Bogunovic, Nico Marr, Davood Mansouri, Fuad Al Mutairi, Vivien Béziat, Dominique Weil, Seyed Alireza Mahdaviani, Alina Ferster, Shen‐Ying Zhang, Bruno Reversade, Stéphanie Boisson‐Dupuis, Jean‐Laurent Casanova, Jacinta Bustamante

    Published 2021
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  20. 20
    Biochemically deleterious human <i>NFKB1</i> variants underlie an autosomal dominant form of common variable immunodeficiency

    Biochemically deleterious human <i>NFKB1</i> variants underlie an autosomal dominant form of common variable immunodeficiency by Juan Li, Wei‐Te Lei, Peng Zhang, Franck Rapaport, Yoann Seeleuthner, Bingnan Lyu, Takaki Asano, Jérémie Rosain, Boualem Hammadi, Yu Zhang, Simon J. Pelham, András N. Spaan, Mélanie Migaud, David Hum, Benedetta Bigio, Maya Chrabieh, Vivien Béziat, Jacinta Bustamante, Shen‐Ying Zhang, Emmanuelle Jouanguy, Stéphanie Boisson‐Dupuis, Jamila El Baghdadi, Vishukumar Aimanianda, Katharina Thoma, Manfred Fliegauf, Bodo Grimbacher, Anne‐Sophie Korganow, Carol Saunders, V. Koneti Rao, Gülbû Uzel, Alexandra F. Freeman, Steven M. Holland, Helen C. Su, Charlotte Cunningham‐Rundles, Claire Fieschi, Laurent Abel, Anne Puel, Aurélie Cobat, Jean‐Laurent Casanova, Qian Zhang, Bertrand Boisson

    Published 2021
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