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Anzahl der Publikationen: 13
Zeitschriftenartikel
Tangye, Stuart G.; Al-Herz, Waleed; Bousfiha, Aziz; Cunningham-Rundles, Charlotte; Franco, Jose Luis; Holland, Steven M.; Klein, Christoph; Morio, Tomohiro; Oksenhendler, Eric; Picard, Capucine; Puel, Anne; Puck, Jennifer; Seppanen, Mikko R. J.; Somech, Raz; Su, Helen C.; Sullivan, Kathleen E.; Torgerson, Troy R. und Meyts, Isabelle
(2022):
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.
In: Journal of Clinical Immunology, Bd. 42, Nr. 7: S. 1473-1507
Bousfiha, Aziz; Moundir, Abderrahmane; Tangye, Stuart G.; Picard, Capucine; Jeddane, Leila; Al-Herz, Waleed; Rundles, Charlotte C.; Franco, Jose Luis; Holland, Steven M.; Klein, Christoph; Morio, Tomohiro; Oksenhendler, Eric; Puel, Anne; Puck, Jennifer; Seppanen, Mikko R. J.; Somech, Raz; Su, Helen C.; Sullivan, Kathleen E.; Torgerson, Troy R. und Meyts, Isabelle
(2022):
The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity.
In: Journal of Clinical Immunology, Bd. 42, Nr. 7: S. 1508-1520
Egg, David; Rump, Ina Caroline; Mitsuiki, Noriko; Rojas-Restrepo, Jessica; Maccari, Maria-Elena; Schwab, Charlotte; Gabrysch, Annemarie; Warnatz, Klaus; Goldacker, Sigune; Patino, Virginia; Wolff, Daniel; Okada, Satoshi; Hayakawa, Seiichi; Shikama, Yoshiaki; Kanda, Kenji; Imai, Kohsuke; Sotomatsu, Manabu; Kuwashima, Makoto; Kamiya, Takahiro; Morio, Tomohiro; Matsumoto, Kazuaki; Mori, Takeshi; Yoshimoto, Yuri; Dybedal, Ingunn; Kanariou, Maria; Kucuk, Zeynep Yesim; Chapdelaine, Hugo; Petruzelkova, Lenka; Lorenz, Hanns-Martin; Sullivan, Kathleen E.; Heimall, Jennifer; Moutschen, Michel; Litzman, Jiri; Recher, Mike; Albert, Michael H.; Hauck, Fabian; Seneviratne, Suranjith; Schmid, Jana Pachlopnik; Kolios, Antonios; Unglik, Gary; Klemann, Christian; Snapper, Scott; Giulino-Roth, Lisa; Svaton, Michael; Platt, Craig D.; Hambleton, Sophie; Neth, Olaf; Gosse, Geraldine; Reinsch, Steffen; Holzinger, Dirk; Kim, Yae-Jean; Bakhtiar, Shahrzad; Atschekzei, Faranaz; Schmidt, Reinhold; Sogkas, Georgios; Chandrakasan, Shanmuganathan; Rae, William; Derfalvi, Beata; Marquart, Hanne Vibeke; Ozen, Ahmet; Kiykim, Ayca; Karakoc-Aydiner, Elif; Kralickova, Pavlina; de Bree, Godelieve; Kiritsi, Dimitra; Seidel, Markus G.; Kobbe, Robin; Dantzer, Jennifer; Alsina, Laia; Armangue, Thais; Lougaris, Vassilios; Agyeman, Philipp; Nystrom, Sofia; Buchbinder, David; Arkwright, Peter D. und Grimbacher, Bodo
(2022):
Therapeutic options for CTLA-4 insufficiency.
In: Journal of Allergy and Clinical Immunology, Bd. 149, Nr. 2: S. 736-746
Magg, Thomas; Okano, Tsubasa; Koenig, Lars M.; Boehmer, Daniel F. R.; Schwartz, Samantha L.; Inoue, Kento; Heimall, Jennifer; Licciardi, Francesco; Ley-Zaporozhan, Julia; Ferdman, Ronald M.; Caballero-Oteyza, Andres; Park, Esther N.; Calderon, Brenda M.; Dey, Debayan; Kanegane, Hirokazu; Cho, Kazutoshi; Montin, Davide; Reiter, Karl; Griese, Matthias; Albert, Michael H.; Rohlfs, Meino; Gray, Paul; Walz, Christoph; Conn, Graeme L.; Sullivan, Kathleen E.; Klein, Christoph; Morio, Tomohiro und Hauck, Fabian
(2021):
Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency.
In: Science Immunology, Bd. 6, Nr. 60, eabf9564
Tangye, Stuart G.; Al-Herz, Waleed; Bousfiha, Aziz; Cunningham-Rundles, Charlotte; Franco, Jose Luis; Holland, Steven M.; Klein, Christoph; Morio, Tomohiro; Oksenhendler, Eric; Picard, Capucine; Puel, Anne; Puck, Jennifer; Seppaenen, Mikko R. J.; Somech, Raz; Su, Helen C.; Sullivan, Kathleen E.; Torgerson, Troy R. und Meyts, Isabelle
(2021):
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee.
In: Journal of Clinical Immunology, Bd. 41, Nr. 3: S. 666-679
Tangye, Stuart G.; Al-Herz, Waleed; Bousfiha, Aziz; Chatila, Talal; Cunningham-Rundles, Charlotte; Etzioni, Amos; Franco, Jose Luis; Holland, Steven M.; Klein, Christoph; Morio, Tomohiro; Ochs, Hans D.; Oksenhendler, Eric; Picard, Capucine; Puck, Jennifer; Torgerson, Troy R.; Casanova, Jean-Laurent und Sullivan, Kathleen E.
(2020):
Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.
In: Journal of Clinical Immunology, Bd. 40, Nr. 1: S. 24-64
Bousfiha, Aziz; Jeddane, Leila; Picard, Capucine; Al-Herz, Waleed; Ailal, Fatima; Chatila, Talal; Cunningham-Rundles, Charlotte; Etzioni, Amos; Franco, Jose Luis; Holland, Steven M.; Klein, Christoph; Morio, Tomohiro; Ochs, Hans D.; Oksenhendler, Eric; Puck, Jennifer; Torgerson, Troy R.; Casanova, Jean-Laurent; Sullivan, Kathleen E. und Tangye, Stuart G.
(2020):
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification.
In: Journal of Clinical Immunology, Bd. 40, Nr. 1: S. 66-81
Tanita, Kay; Hoshino, Akihiro; Imadome, Ken-Ichi; Kamiya, Takahiro; Inoue, Kento; Okano, Tsubasa; Yeh, Tzu-wen; Yanagimachi, Masakatsu; Shiraishi, Akira; Ishimura, Masataka; Schober, Tilmann; Rohlfs, Meino; Takagi, Masatoshi; Imai, Kohsuke; Takada, Hidetoshi; Ohga, Shouichi; Klein, Christoph; Morio, Tomohiro und Kanegane, Hirokazu
(4. Februar 2019):
Epstein-Barr Virus-Associated γδ T-Cell Lymphoproliferative Disorder Associated With Hypomorphic IL2RG Mutation.
In: Frontiers in Pediatrics, Bd. 7, 15: S. 1-6
[PDF, 1MB]
Picard, Capucine; Bobby Gaspar, H.; Al-Herz, Waleed; Bousfiha, Aziz; Casanova, Jean-Laurent; Chatila, Talal; Crow, Yanick J.; Cunningham-Rundles, Charlotte; Etzioni, Amos; Luis Franco, Jose; Holland, Steven M.; Klein, Christoph; Morio, Tomohiro; Ochs, Hans D.; Oksenhendler, Eric; Puck, Jennifer; Tang, Mimi L. K.; Tangye, Stuart G.; Torgerson, Troy R. und Sullivan, Kathleen E.
(2018):
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.
In: Journal of Clinical Immunology, Bd. 38, Nr. 1: S. 96-128
Bousfiha, Aziz; Jeddane, Leila; Picard, Capucine; Ailal, Fatima; Gaspar, H. Bobby; Al-Herz, Waleed; Chatila, Talal; Crow, Yanick J.; Cunningham-Rundles, Charlotte; Etzioni, Amos; Luis Franco, Jose; Holland, Steven M.; Klein, Christoph; Morio, Tomohiro; Ochs, Hans D.; Oksenhendler, Eric; Puck, Jennifer; Tang, Mimi L. K.; Tangye, Stuart G.; Torgerson, Troy R.; Casanova, Jean-Laurent und Sullivan, Kathleen E.
(2018):
The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies.
In: Journal of Clinical Immunology, Bd. 38, Nr. 1: S. 129-143
Petersheim, Daniel; Massaad, Michel J.; Lee, Saetbyul; Scarselli, Alessia; Cancrini, Caterina; Moriya, Kunihiko; Sasahara, Yoji; Lankester, Arjan C.; Dorsey, Morna; Di Giovanni, Daniela; Bezrodnik, Liliana; Ohnishi, Hidenori; Nishikomori, Ryuta; Tanita, Kay; Kanegane, Hirokazu; Morio, Tomohiro; Gelfand, Erwin W.; Jain, Ashish; Secord, Elizabeth; Picard, Capucine; Casanova, Jean-Laurent; Albert, Michael H.; Torgerson, Troy R. und Geha, Raif S.
(2018):
Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.
In: Journal of Allergy and Clinical Immunology, Bd. 141, Nr. 3: S. 1060-1073
Toubiana, Julie; Okada, Satoshi; Hiller, Julia; Oleastro, Matias; Lagos Gomez, Macarena; Aldave Becerra, Juan Carlos; Ouachée-Chardin, Marie; Fouyssac, Fanny; Girisha, Katta Mohan; Etzioni, Amos; Montfrans, Joris van; Camcioglu, Yildiz; Kerns, Leigh Ann; Belohradsky, Bernd; Blanche, Stéphane; Bousfiha, Aziz; Rodriguez-Gallego, Carlos; Meyts, Isabelle; Kisand, Kai; Reichenbach, Janine; Renner, Ellen D.; Rosenzweig, Sergio; Grimbacher, Bodo; Veerdonk, Frank L. van de; Traidl-Hoffmann, Claudia; Picard, Capucine; Marodi, Laszlo; Morio, Tomohiro; Kobayashi, Masao; Lilic, Desa; Milner, Joshua D.; Holland, Steven; Casanova, Jean-Laurent; Puel, Anne; Cypowyj, Sophie; Thumerelle, Caroline; Toulon, Antoine; Bustamante, Jacinta; Tahuil, Natalia; Salhi, Aicha; Boiu, Sorina; Chopra, Charu; Di Giovanni, Daniela; Bezrodnik, Liliana; Boutros, Jeannette; Thomas, Caroline; Lacuesta, Gina; Jannier, Sarah; Korganow, Anne-Sophie; Paillard, Catherine; Boutboul, David; Bue, Melanie; Marie-Cardine, Aude; Bayart, Sophie; Migaud, Melanie; Weiss, Laurence; Karmochkine, Marina; Garcia-Martinez, Juan-Miguel; Stephan, Jean-Louis; Bensaid, Philippe; Jaennoel, Guy-Patrick; Witte, Torsten; Baumann, Ulrich; Harrer, Thomas; Navarrete, Carmen; Benjamin, Antony Terance; Firinu, Davide; Pignata, Claudio; Picco, Paolo; Mendoza, David; Reyes, Saul Oswaldo Lugo; Lozano, Carlos Torres; Ortega-Cisneros, Margarita; Cortina, Mariana; Mesdaghi, Mehrnaz; Nabavi, Mohammad; Espanol, Teresa; Martinez-Saavedra, Maia Teresa; Rezaei, Nima; Zoghi, Samaneh; Pac, Malgorzata; Barlogis, Vincent; Revon-Riviere, Gabriel; Haimi-Cohen, Yishai; Spiegel, Ronen; Miron, Dan; Bouchaib, Jabir; Blancas-Galicia, Lizbeth; Toth, Beata; Drexel, Barbara; Rohrlich, Pierre Simon; Lesens, Olivier; Hoernes, Miriam; Drewe, Elizabeth; Abinum, Mario; Sawalle-Belohradsky, Julie; Kindle, Gerhard; Depner, Mark; Milani, Lili; Nikopensius, Tiit; Remm, Maido; Talas, Ulvi Gerst; Tucker, Mark; Willis, Mary; Leonard, Stephanie; Meuwissen, Hilaire; Ferdman, Ronald M.; Wallace, Mark; Desai, Mukesh M.; Taur, Prasad; Badolato, Raffaele; Soltesz, Beata; Schnopp, Christina; Jansson, Annette F.; Ayvaz, Deniz; Shabashova, Nadejda; Chernyshova, Liudmyla; Bondarenko, Anastasia; Moshous, Despina; Neven, Benedicte; Boubidi, Chahinez; Ailal, Fatima; Giardino, Giuliana; Del Giacco, Stefano; Bougnoux, Marie-Elisabeth; Imai, Kohsuke; Okawa, Teppei; Mizoguchi, Yoko; Ozaki, Yusuke; Takeuchi, Masato; Hayakawa, Akira; Logering, Birgit; Reich, Kristian; Buhl, Timo; Eyerich, Kilian; Schaller, Martin; Arkwright, Peter D.; Gennery, Andrew R.; Cant, Andrew J.; Warris, Adilia; Henriet, Stefanie; Mekki, Najla; Barbouche, Ridha; Ben Mustapha, Imen; Bodemer, Christine; Polak, Michel; Grimprel, Emmanuel; Burgel, Pierre-Regis; Fischer, Alain; Hermine, Olivier; Debre, Marianne; Kocacyk, Dilara; Dhalla, Fatima; Patel, Smita Y.; Moens, Leen; Haerynck, Filomeen; Dullaers, Melissa; Hoste, Levi; Sanal, Ozden; Kilic, Sara Sebnem; Roesler, Joachim; Lanternier, Fanny; Lortholary, Olivier; Fieschi, Claire; Church, Joseph A.; Roifman, Chaim; Yuenyongviwat, Araya; Peterson, Part; Boisson-Dupuis, Stephanie; Abel, Laurent; Marciano, Beatriz E. und Netea, Mihai G.
(2016):
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
In: Blood, Bd. 127, Nr. 25: S. 3154-3164
Gámez-Díaz, Laura; August, Dietrich; Stepensky, Polina; Revel-Vilk, Shoshana; Seidel, Markus G.; Noriko, Mitsuiki; Morio, Tomohiro; Worth, Austen J. J.; Blessing, Jacob; Veerdonk, Frank van de; Feuchtinger, Tobias; Kanariou, Maria; Schmitt-Graeff, Annette; Jung, Sophie; Seneviratne, Suranjith; Burns, Siobhan; Belohradsky, Bernd H.; Rezaei, Nima; Bakhtiar, Shahrzad; Speckmann, Carsten; Jordan, Michael und Grimbacher, Bodo
(2016):
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.
In: Journal of Allergy and Clinical Immunology, Bd. 137, Nr. 1: S. 223-230