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2 results on '"Elma Nievas"'

1. Abstracts from the 10th C1-inhibitor deficiency workshop

Author

Mikhail Belevtsev, Jens Greve, Pierre-Yves Jeandel, Ana Maria Gallardo-Olivos, William R. Lumry, Yael Laitman, Marc A. Riedl, Jean-Nicolas Boursiquot, Dasha Roa, Péter Závodszky, Kraig Jacobson, Susanne Trainotti, Maria Staevska, Márcia Gonçalves Ribeiro, Zeynep Gutowski, François Marceau, Alejandra Menendez, Eric Wagner, Y. Ollivier, Alvin H. Schmaier, Rolando Campilay-Sarmiento, Amin S. Kanani, Valeria Bafunno, Christine Symons, Svetlana Aleshkevich, Stephanie K. A. Almeida, Kusumam Joseph, Teresa Caballero, Hava Golander, Nancy J. Brown, Xavier Charest-Morin, Peter Banovcin, Arnaud Bonnefoy, Sajedeh Mohammadian, Mustafa Shennak, William P. Sheridan, Ira Kalfus, Claudio M. Costa-Neto, Rafael Filippelli-Silva, Anete Sevciovic Grumach, Solange Oliveira Rodrigues Valle, Oscar M. E. Calderón-Llosa, Panagiota Gianni, Emel Aygören-Pürsün, Rosemeire Navickas Constantino-Silva, Zsuzsanna Németh, Irmgard Andresen, Konrad Bork, Mauro Cancian, Claire de Moreuil, Janne Björkander, Melissa I. Espinosa, Tamás Szilágyi, Maria Rosario-Grauert, Jane da Silva, Michael Bader, Ying Zhang, Jana Hanzlíková, Sylvia Dobo, Carl-Fredrik Wahlgren, Jacquie Badiou, Diego A. Duarte, Marta Del Medico, Stefania Loffredo, Avner Reshef, Maria Palasopoulou, Ludmila Vavrova, Marie Dubrel, Raheleh Shokouhi Shoormasti, Bruce L. Zuraw, Susan Nabilou Deshiry, Shiva Saghafi, Ekaterina Polyakova, Matthieu Vincent, Douglas J. Watson, Mohammad Reza Fazlollahi, Anne Rowe, Shawn Qian, Blanca Sáenz de San Pedro, Christelle Pommie, Sofía Garrido, Sandra Mitie Ueda Palma, András Szilágyi, Luis Fernando Landivar-Salinas, Audrey Lehmann, Maria L. Baeza, Kiana Bidad, Hugo Chapdeleine, Stéphane Gayet, Davide Firinu, Nancy Payette, Christine Pajot, Nyla Melo, Pavel Kuklínek, Pablo Raby, Nóra Veszeli, Ingo Pragst, Desiree Clemons, Anne Pagnier, Attila Mócsai, Carmen Escuriola Ettingshausen, Henrike Feuersenger, Noémi Andrási, Paul K. Keith, Phil Collis, Ernie Avilla, Olivier Fain, Iris Leibovich-Nassi, Dario O. Josviack, Jiří Litzman, Con Panousis, Denise Ponard, Sébastien Trouiller, Ráhel Dani, Francesco Casella, Ana Rodríguez, Isabelle Boccon-Gibod, Nada Afifi Afifi, Olga M. Barrera, Gina Lacuesta, Gian Marco Podda, Anne Lise Ferrara, Samuel Luyasu, Ludovic Martin, Patrik Nordenfelt, Linda Howlett, William H. Yang, Sandra A. Nieto, Anders Lindfors, Zahra Pourpak, Stéphanie Amarger, Adriana Hernanz, Jochen Hardt, Julian Rodriguez-Galindo, Claire Blanchard-Delaunay, Antonio Castelli, Marta Sánchez-Jareño, Renata Martins, Bertrand Favier, Yi Wang, Rosario Cabañas, Anthony Roberts, Renan Paulo Martin, Alexandre Belot, Vincenzo Montinaro, Eitan Friedman, João Bosco Pesquero, Maria Kompoti, Bruna Franca Azevedo, Mikolajczyk Tomasz, Georges-É. Rivard, Katalin Várnai, Gábor Oroszlán, Arije Ghannam, David Launay, Fotis Psarros, Manuel Ratti, Maria Luiza Oliva Alonso, Bernard Floccard, Mariana Lluncor, Karen Binkley, Gianni Marone, Anne Gompel, Dominik Gulyás, John Dempster, Liudmyla Zabrodska, Emanuele Catena, Anna Bogdali, Irina Guryanova, Andrej Salivonchik, Camila Lopes Veronez, L. Fang, Eleonora Tobaldini, Lilian Varga, Chiara Suffritti, Daniel Vaszquez, Peter Waite, Maria Zamanakou, Ana Alvez, Laurence Bouillet, Péter Gál, Susan Waserman, Krystyna Obtułowicz, Marcin Stobiecki, Alain Sobel, Karin Wulff, A. Z. Sin, Margarita Olivares, Dipti Pawaskar, Mats Nilsson, Endre Schwaner, Brigitte Coppere, Anna Valerieva, Remi Gagnon, Marlon J. O. Carabantes, Stefano Pizzimenti, H. Onay, Paula J. Busse, Delphine Charignon, William Rae, Marco Cicardi, Kinga Viktória Kőhalmi, Inmaculada Martinez-Saguer, Daniel J. Sexton, Matthaios Speletas, Aarnoud Huissoon, René Bailleau, Fabien Pelletier, Elena Petkova, Joanna Araujo Simoes, Guillaume Armengol, Amanda Mathis, Rosangela P. Tortora, Raz Somech, Andreas Gille, Anastasios E. Germenis, Martin Hrubisko, Marylin Desjardins, Dorottya Csuka, María Pedrosa, Jose Fabiani, Stephen Betschel, Timothy J. Craig, Vasil Dimitrov, Andrew McDonald, Alberto López Lera, Márta L. Debreczeni, Eli Mansour, Teofila Książek, Teófilo Lobera, Rozita Borici-Mazi, O. Gulbahar, Aleena Banerji, Jochen Graff, Marta Sobotkova, Annette Feussner, Andrea Zanichelli, Ewa Czarnobilska, Anna Koncz, Milos Jesenak, Edison Zapata-Venegas, Aurore Billebeau, Gedeon Loules, Melanie Nordmann-Kleiner, Werner Aberer, Richard Linde, Guenther Witzke, Kristina Lis, Markus Magerl, Jana Strenková, Emmanouil Manoussakis, József Dobó, Viktar Lebedz, Masumi Grau, Raquel Martins, Melanie Cornpropst, Jovanna Baptista, Marcus Maurer, Dumitru Moldovan, György Temesszentandrási, Isabelle Boccon-Gibbod, Thomas Machnig, C Marcos, Erika Kajdácsi, Tim Green, John Anderson, Karin Andritschke, D. Soteres, Riccardo Colombo, Mario Martinez Alfonso, Anna Radice, Huamin Henry Li, Tsvetelina Velikova, Ruggero Di Maulo, Mariela Borisova Vasileva, Angelica Petraroli, Francesca Perego, Francisco A. Contreras, Roman Hakl, Urs C. Steiner, Anurag Relan, N. Prior, Irena Krčmová, Jennifer Schranz, Martina Vachová, Baby G. Tholanikunnel, R. Lleonart, Maria Bova, Allen P. Kaplan, N. M. Gokmen, Nicola Montano, Margarita López-Trascasa, Tiziana Maria Angela De Pasquale, Alicia Prieto, Kristian Buur Kreiberg, Mohammad Hassan Bemanian, Alessandra Zoli, Michael A. Tortorici, Erika J. Sifuentes, László Cervenak, Borislava Krusheva, Maria E. Hernandez-Landeros, Wojciech Dyga, Oleksandra Lepeshkina, Elma Nievas, L. Bellizzi, Christian Drouet, C. Mansard, Michel Bouvier, Aurélie Du Thanh, Donatella Lamacchia, Janina Hahn, Radana Zachova, Iraj Mohammadzadeh, T González-Quevedo, Z. P. Koc, Jacques Hébert, Hilary Longhurst, Maddalena Alessandra Wu, Ariane Zélinsky-Gurung, Jim Christensen, Maurizio Margaglione, Maryam Ayazi, Vesna Grivcheva Panovska, Faidra Parsopoulou, Jonathan A. Bernstein, Anette Bygum, Seyed Alireza Mahdaviani, Henriette Farkas, Aleksander Obtułowicz, Natalia Fili, Gisèle Kanny, Gerasimina Tsinti, Alfeu Tavares França, George N. Konstantinou, Benoit Laramée, Katarina Hrubiskova, Lisa Fu, J. Laurent, and Arthur Van Leerberghe

Subjects
lcsh:Immunologic diseases. Allergy, 0301 basic medicine, 03 medical and health sciences, 030102 biochemistry & molecular biology, C1 inhibitor deficiency, business.industry, Immunology, Medicine, General Medicine, lcsh:RC581-607, business, Meeting Abstracts
Published
2017
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2. Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

Author

Elma Nievas, Alexandra Y. Kreins, Geetha Rao, Yuval Itan, Lennart Hammarström, Xiao-Fei Kong, Capucine Picard, Damien Chaussabel, Mikael Sundin, Stefan Rose-John, Hye Sun Kuehn, Caroline Deswarte, Noé Ramírez-Alejo, Rabih Halwani, Seyed Alireza Mahdaviani, Rubén Martínez-Barricarte, Davood Mansouri, Laia Alsina, Stéphanie Boisson-Dupuis, Ayoub Sabri, Satoshi Okada, Aurélie Cobat, Dusan Bogunovic, Valérie Cormier-Daire, Safa El Azbaoui, Jean-Laurent Casanova, Jacinta Bustamante, Mélanie Migaud, Marcela Moncada-Vélez, Andrea Bernasconi, Jennifer Stoddard, Michael J. Ciancanelli, Stuart G. Tangye, Christoph Klein, Audrey V. Grant, Sergio D. Rosenzweig, Daniel Kotlarz, Che Kang Lim, Anne Puel, Sara Sebnem Kilic, Yoshiyuki Minegishi, Cindy S. Ma, Saleh Al-Muhsen, Danielle T. Avery, Bertrand Boisson, Paul Deveau, Shigeaki Nonoyama, Aziz Bousfiha, Fatima Ailal, Jamila El Baghdadi, Laurent Abel, Bernhard Fleckenstein, Ingrid Müller-Fleckenstein, and Julie E. Niemela

Subjects
Male, Adolescent, T-Lymphocytes, Immunology, Immunoglobulin E, Mucocutaneous Candidiasis, Interleukin-23, Inflammatory bowel disease, Article, Interferon-gamma, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Genotype, Leukocytes, medicine, Humans, Immunology and Allergy, Child, 030304 developmental biology, TYK2 Kinase, Mycobacterium Infections, 0303 health sciences, biology, Interleukin-6, Infant, Atopic dermatitis, medicine.disease, Interleukin-12, Phenotype, Interleukin-10, 3. Good health, Virus Diseases, Tyrosine kinase 2, Case-Control Studies, Child, Preschool, Mutation, biology.protein, Female, Job Syndrome, Leukemia inhibitory factor, 030215 immunology
Abstract

Kreins et al. report the identification and immunological characterization of a group of TYK2-deficient patients., Autosomal recessive, complete TYK2 deficiency was previously described in a patient (P1) with intracellular bacterial and viral infections and features of hyper-IgE syndrome (HIES), including atopic dermatitis, high serum IgE levels, and staphylococcal abscesses. We identified seven other TYK2-deficient patients from five families and four different ethnic groups. These patients were homozygous for one of five null mutations, different from that seen in P1. They displayed mycobacterial and/or viral infections, but no HIES. All eight TYK2-deficient patients displayed impaired but not abolished cellular responses to (a) IL-12 and IFN-α/β, accounting for mycobacterial and viral infections, respectively; (b) IL-23, with normal proportions of circulating IL-17+ T cells, accounting for their apparent lack of mucocutaneous candidiasis; and (c) IL-10, with no overt clinical consequences, including a lack of inflammatory bowel disease. Cellular responses to IL-21, IL-27, IFN-γ, IL-28/29 (IFN-λ), and leukemia inhibitory factor (LIF) were normal. The leukocytes and fibroblasts of all seven newly identified TYK2-deficient patients, unlike those of P1, responded normally to IL-6, possibly accounting for the lack of HIES in these patients. The expression of exogenous wild-type TYK2 or the silencing of endogenous TYK2 did not rescue IL-6 hyporesponsiveness, suggesting that this phenotype was not a consequence of the TYK2 genotype. The core clinical phenotype of TYK2 deficiency is mycobacterial and/or viral infections, caused by impaired responses to IL-12 and IFN-α/β. Moreover, impaired IL-6 responses and HIES do not appear to be intrinsic features of TYK2 deficiency in humans.

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