Peculiar hyper-IgM syndrome. Case report / Sindrom hiper-IgM atipic. Prezentare de caz

by Iurian Sorin Ioan, Marodi Laszlo, Picard Capucine
Published 2015-08-01

Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots

by Johnson, Britt, Mascher, Hermann, Mascher, Daniel, Legnini, Elisa, Hung, Christina Y, Dajnoki, Angela, Chien, Yin-Hsiu, Maródi, László, Hwu, Wuh-Liang, Bodamer, Olaf A
Published 2013

Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation

by Warnock, David G., Ortiz, Alberto, Mauer, Michael, Linthorst, Gabor E., Oliveira, João P., Serra, Andreas L., Maródi, László, Mignani, Renzo, Vujkovac, Bojan, Beitner-Johnson, Dana, Lemay, Roberta, Cole, J.Alexander, Svarstad, Einar, Waldek, Stephen, Germain, Dominique P., Wanner, Christoph
Published 2012

A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair

by Péron, Sophie, Pan-Hammarström, Qiang, Imai, Kohsuke, Du, Likun, Taubenheim, Nadine, Sanal, Ozden, Marodi, Laszlo, Bergelin-Besançon, Anne, Benkerrou, Malika, de Villartay, Jean-Pierre, Fischer, Alain, Revy, Patrick, Durandy, Anne
Published 2007

The cognitive profile of type 1 Gaucher disease patients

by Biegstraaten, Marieke, Wesnes, Keith A., Luzy, Cécile, Petakov, Milan, Mrsic, Mirando, Niederau, Claus, Giraldo, Pilar, Hughes, Derralynn, Mehta, Atul, Mengel, Karl-Eugen, Hollak, Carla E. M, Maródi, László, van Schaik, Ivo N.
Published 2012

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe

by Soltész, Beáta, Tóth, Beáta, Shabashova, Nadejda, Bondarenko, Anastasia, Okada, Satoshi, Cypowyj, Sophie, Abhyankar, Avinash, Csorba, Gabriella, Taskó, Szilvia, Sarkadi, Adrien Katalin, Méhes, Leonóra, Rozsíval, Pavel, Neumann, David, Chernyshova, Liudmyla, Tulassay, Zsolt, Puel, Anne, Casanova, Jean-Laurent, Sediva, Anna, Litzman, Jiri, Maródi, László
Published 2013

Pathogenic Fungi Regulate Immunity by Inducing Neutrophilic Myeloid-Derived Suppressor Cells

by Rieber, Nikolaus, Singh, Anurag, Öz, Hasan, Carevic, Melanie, Bouzani, Maria, Amich, Jorge, Ost, Michael, Ye, Zhiyong, Ballbach, Marlene, Schäfer, Iris, Mezger, Markus, Klimosch, Sascha N., Weber, Alexander N.R., Handgretinger, Rupert, Krappmann, Sven, Liese, Johannes, Engeholm, Maik, Schüle, Rebecca, Salih, Helmut Rainer, Marodi, Laszlo, Speckmann, Carsten, Grimbacher, Bodo, Ruland, Jürgen, Brown, Gordon D., Beilhack, Andreas, Loeffler, Juergen, Hartl, Dominik
Published 2015

Selective predisposition to bacterial infections in IRAK-4–deficient children: IRAK-4–dependent TLRs are otherwise redundant in protective immunity

by Ku, Cheng-Lung, von Bernuth, Horst, Picard, Capucine, Zhang, Shen-Ying, Chang, Huey-Hsuan, Yang, Kun, Chrabieh, Maya, Issekutz, Andrew C., Cunningham, Coleen K., Gallin, John, Holland, Steven M., Roifman, Chaim, Ehl, Stephan, Smart, Joanne, Tang, Mimi, Barrat, Franck J., Levy, Ofer, McDonald, Douglas, Day-Good, Noorbibi K., Miller, Richard, Takada, Hidetoshi, Hara, Toshiro, Al-Hajjar, Sami, Al-Ghonaium, Abdulaziz, Speert, David, Sanlaville, Damien, Li, Xiaoxia, Geissmann, Frédéric, Vivier, Eric, Maródi, László, Garty, Ben-Zion, Chapel, Helen, Rodriguez-Gallego, Carlos, Bossuyt, Xavier, Abel, Laurent, Puel, Anne, Casanova, Jean-Laurent
Published 2007

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

by Liu, Luyan, Okada, Satoshi, Kong, Xiao-Fei, Kreins, Alexandra Y., Cypowyj, Sophie, Abhyankar, Avinash, Toubiana, Julie, Itan, Yuval, Audry, Magali, Nitschke, Patrick, Masson, Cécile, Toth, Beata, Flatot, Jérome, Migaud, Mélanie, Chrabieh, Maya, Kochetkov, Tatiana, Bolze, Alexandre, Borghesi, Alessandro, Toulon, Antoine, Hiller, Julia, Eyerich, Stefanie, Eyerich, Kilian, Gulácsy, Vera, Chernyshova, Ludmyla, Chernyshov, Viktor, Bondarenko, Anastasia, María Cortés Grimaldo, Rosa, Blancas-Galicia, Lizbeth, Madrigal Beas, Ileana Maria, Roesler, Joachim, Magdorf, Klaus, Engelhard, Dan, Thumerelle, Caroline, Burgel, Pierre-Régis, Hoernes, Miriam, Drexel, Barbara, Seger, Reinhard, Kusuma, Theresia, Jansson, Annette F., Sawalle-Belohradsky, Julie, Belohradsky, Bernd, Jouanguy, Emmanuelle, Bustamante, Jacinta, Bué, Mélanie, Karin, Nathan, Wildbaum, Gizi, Bodemer, Christine, Lortholary, Olivier, Fischer, Alain, Blanche, Stéphane, Al-Muhsen, Saleh, Reichenbach, Janine, Kobayashi, Masao, Rosales, Francisco Espinosa, Lozano, Carlos Torres, Kilic, Sara Sebnem, Oleastro, Matias, Etzioni, Amos, Traidl-Hoffmann, Claudia, Renner, Ellen D., Abel, Laurent, Picard, Capucine, Maródi, László, Boisson-Dupuis, Stéphanie, Puel, Anne, Casanova, Jean-Laurent
Published 2011