Searching for Genetic Biomarkers for Hereditary Angioedema Due to C1-Inhibitor Deficiency (C1-INH-HAE)

Autor: Faidra Parsopoulou, Gedeon Loules, Maria Zamanakou, Dorottya Csuka, Agnes Szilagyi, Maria Kompoti, Grzegorz Porebski, Fotis Psarros, Markus Magerl, Anna Valerieva, Maria Staevska, Krystyna Obtulowicz, Marcus Maurer, Matthaios Speletas, Henriette Farkas, Anastasios E. Germenis

Publikováno v: Frontiers in Allergy, Vol 3 (2022)

Existing evidence indicates that modifier genes could change the phenotypic outcome of the causal SERPING1 variant and thus explain the expression variability of hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE). To further examine th

Externí odkaz: https://doaj.org/article/682605afc7d149e09afde2f8ffc372ed

Abstracts from the 10th C1-inhibitor deficiency workshop

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

Publikováno v: Allergy, Asthma & Clinical Immunology, Vol 13, Iss S2, Pp 1-36 (2017)

Externí odkaz: https://doaj.org/article/a8be06e4de054c91a068b9544cdaeb12

Two novel HLA‐DRB1 alleles detected in inhabitants from the island of Crete

Autor: Helen A. Papadaki, Alexandros Kanterakis, Irene Mavroudi, Maria Zamanakou, Helen Latsoudis

Publikováno v: HLA. 97:163-166

Characterization of the novel HLA-DRB1*04:311 and HLA-DRB1*11:277 alleles in two Greek individuals of Cretan origin.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69bf09bb52aea0160520c4122ac1e457
https://doi.org/10.1111/tan.14126

International Consensus on the Use of Genetics in the Management of Hereditary Angioedema

Autor: Jose Fabiani, Emel Aygören-Pürsün, Sladjana Andrejevic, Christian Drouet, Nóra Veszeli, Matija Rijavec, Georg Dewald, Markus Magerl, Michael Kirschfink, Marco Cicardi, Camila Lopes Veronez, Imola Beatrix Nagy, Massimo Triggiani, Maria Zamanakou, Henrik Halle Boysen, Matthaios Speletas, Maria Bova, Maria Staevska, Maurizio Margaglione, Sandra C. Christiansen, Teresa Caballero, Milos Jesenak, Vesna Grivcheva-Panovska, Allen P. Kaplan, Kinga Viktoria Köhalmi, Anthony J. Castaldo, Roman Hakl, Gaëlle Hardy, Walter A. Wuillemin, Inmaculada Martinez Saguer, Margarita López Trascasa, João Bosco Pesquero, Sven Cichon, Jonathan A. Bernstein, Grzegorz Porebski, Patrik Nordenfelt, C. Katelaris, Anette Bygum, Maria Teresa Gonzalez-Quevedo, Stephen Jolles, Henriette Farkas, Sandra A. Nieto, William R. Lumry, Hilary Longhurst, Spath Peter, Iris Leibovich, Nihal M. Gökmen, Christina Weber, Noemi-Anna Bara, Konrad Bork, Alberto López Lera, Dorottya Csuka, Fotis Psarros, Laurence Bouillet, Marc A. Riedl, Bruce L. Zuraw, Anete Sevciovic Grumach, Farrukh R. Sheikh, Marcin Stobiecki, Anastasios E. Germenis, Ágnes Szilágyi, Avner Reshef, Susan Waserman, J. Gooi

Publikováno v: Germenis, A E, Margaglione, M, Pesquero, J B, Farkas, H, Cichon, S, Csuka, D, Lera, A L, Rijavec, M, Jolles, S, Szilagyi, A, Trascasa, M L, Veronez, C L, Drouet, C, Zamanakou, M & Hereditary Angioedema International Working Group 2020, ' International Consensus on the Use of Genetics in the Management of Hereditary Angioedema ', The Journal of Allergy and Clinical Immunology: In Practice, vol. 8, no. 3, pp. 901-911 . https://doi.org/10.1016/j.jaip.2019.10.004

Hereditary angioedema (HAE) is becoming much more genetically complex than was initially considered. Thus, the role of HAE genetics is expanding beyond research laboratories, and the genotyping of subjects suffering from HAE has become diagnostically

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dea94416edd37dfc324e3c33be73422
https://doi.org/10.1016/j.jaip.2019.10.004

Deep Intronic SERPING1 Gene Variants: Ending One Odyssey and Starting Another?

Autor: Dorottya Csuka, Maria Zamanakou, Henriette Farkas, Anastasios E. Germenis, Sofia Vatsiou

Publikováno v: Journal of Clinical Immunology. 41:248-250

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b4e7be878e15480865ece55529cbf03f
https://doi.org/10.1007/s10875-020-00887-3