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Anzahl der Publikationen: 16
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
Hoshino, Akihiro; Boutboul, David; Zhang, Yuan; Kuehn, Hye Sun; Hadjadj, Jerome; Ozdemir, Nihal; Celkan, Tiraje; Walz, Christoph; Picard, Capucine; Lenoir, Christelle; Mahlaoui, Nizar; Klein, Christoph; Peng, Xiao; Azar, Antoine; Reigh, Erin; Cheminant, Morgane; Fischer, Alain; Rieux-Laucat, Frederic; Callebaut, Isabelle; Hauck, Fabian; Milner, Joshua; Rosenzweig, Sergio D. und Latour, Sylvain
(2022):
Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation.
In: Science Immunology, Bd. 7, Nr. 69, eabi7160
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
Tometten, Inga; Felgentreff, Kerstin; Hoenig, Manfred; Hauck, Fabian; Albert, Michael H.; Niehues, Tim; Perez, Ruy; Ghosh, Sujal; Picard, Capucine; Stary, Jan; Formankova, Renata; Worth, Austen; Soler-Palacin, Pere; Garcia-Prat, Marina; Allende, Luis M.; Gonzalez-Granado, Luis Ignacio; Stepensky, Polina; Di Cesare, Silvia; Scarselli, Alessia; Cancrini, Caterina; Speckmann, Carsten; Gilmour, Kimberly; Notarangelo, Luigi; Ehl, Stephan und Rohr, Jan C.
(2019):
Increased proportions of gamma delta T lymphocytes in atypical SCID associate with disease manifestations.
In: Clinical Immunology, Bd. 201: S. 30-34
Aydin, Susanne E.; Freeman, Alexandra F.; Al-Herz, Waleed; Al-Mousa, Hamoud A.; Arnaout, Rand K.; Aydin, Roland C.; Barlogis, Vincent; Belohradsky, Bernd H.; Bonfim, Carmem; Bredius, Robbert G.; Chu, Julia I.; Ciocarlie, Oana C.; Dogu, Figen; Gaspar, Hubert B.; Geha, Raif S.; Gennery, Andrew R.; Hauck, Fabian; Hawwari, Abbas; Hickstein, Dennis D.; Hönig, Manfred; Ikinciogullari, Aydan; Klein, Christoph; Kumar, Ashish; Ifversen, Marianne R. S.; Matthes, Susanne; Metin, Ayse; Neven, Benedicte; Pai, Sung-Yun; Parikh, Suhag H.; Picard, Capucine; Renner, Ellen D.; Sanal, Özden; Schulz, Ansgar S.; Schuster, Friedhelm; Shah, Nirali N.; Shereck, Evan B.; Slatter, Mary A.; Su, Helen C.; Montfrans, Joris van; Woessmann, Wilhelm; Ziegler, John B. und Albert, Michael H.
(2018):
Hematopoietic stem cell transplantation as treatment for patients with DOCK8 deficiency.
In: Journal of Allergy and Clinical Immunology
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
Boutboul, David; Kuehn, Hye Sun; Wyngaert, Zoe van de; Niemela, Julie E.; Callebaut, Isabelle; Stoddard, Jennifer; Lenoir, Christelle; Barlogis, Vincent; Farnarier, Catherine; Vely, Frederic; Yoshida, Nao; Kojima, Seiji; Kanegane, Hirokazu; Hoshino, Akihiro; Hauck, Fabian; Lhermitte, Ludovic; Asnafi, Vahid; Roehrs, Philip; Chen, Shaoying; Verbsky, James W.; Calvo, Katherine R.; Husami, Ammar; Zhang, Kejian; Roberts, Joseph; Amrol, David; Sleaseman, John; Hsu, Amy P.; Holland, Steven M.; Marsh, Rebecca; Fischer, Alain; Fleisher, Thomas A.; Picard, Capucine; Latour, Sylvain und Rosenzweig, Sergio D.
(2018):
Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency.
In: Journal of Clinical Investigation, Bd. 128, Nr. 7: S. 3071-3087
Speckmann, Carsten; Doerken, Sam; Aiuti, Alessandro; Albert, Michael H.; Al-Herz, Waleed; Allende, Luis M.; Scarselli, Alessia; Avcin, Tadej; Perez-Becker, Ruy; Cancrini, Caterina; Cant, Andrew; Cesare, Silvia di; Finocchi, Andrea; Fischer, Alain; Gaspar, H. Bobby; Ghosh, Sujal; Gennery, Andrew; Gilmour, Kimberly; Gonzalez-Granado, Luis I.; Martinez-Gallo, Monica; Hambleton, Sophie; Hauck, Fabian; Hoenig, Manfred; Moshous, Despina; Neven, Benedicte; Niehues, Tim; Notarangelo, Luigi; Picard, Capucine; Rieber, Nikolaus; Schulz, Ansgar; Schwarz, Klaus; Seidel, Markus G.; Soler-Palacin, Pere; Stepensky, Polina; Strahm, Brigitte; Vraetz, Thomas; Warnatz, Klaus; Winterhalter, Christine; Worth, Austen; Fuchs, Sebastian; Uhlmann, Annette und Ehl, Stephan
(2017):
A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.
In: Journal of Allergy and Clinical Immunology, Bd. 139, Nr. 4: S. 1302-1310
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
Aydin, Susanne; Freeman, Alexandra F.; Su, Helen; Hickstein, Dennis; Pai, Sung-Yun; Geha, Raif; Chatila, Talal; Arnaout, Rand K.; Al-Mousa, Hamoud; Al-Dhekri, Hasan; Renner, Ellen D.; Belohradsky, Bernd H.; Notheis, Gundula; Aydin, Roland; Gaspar, Bobby H.; Al-Herz, Waleed; Gennery, Andrew; Slatter, Mary; Metin, Ayse; Isik, Pamir; Azik, Fatih; Ikinciogullari, Aydan; Haskologlu, Sule; Dogu, Figen; Kumar, Ashish; Ifversen, Marianne; Schuster, Friedhelm; Woessmann, Wilhelm; Bredius, Robbert; Barlogis, Vincent; Kainulainen, Leena; Picard, Capucine; Neven, Benedicte; Shereck, Evan; Schulz, Ansgar; Dueckers, Gregor; Montfrans, Joris van; Matthes-Martin, Susanne; Keles, Sevgi; Ochs, Hans und Albert, Michael H.
(2016):
HSCT for DOCK8 Deficiency - an International Study on 74 Patients.
In: Biology of Blood and Marrow Transplantation, Bd. 22, Nr. 3:
S103-S104
Al-Herz, Waleed; Bousfiha, Aziz; Casanova, Jean-Laurent; Chatila, Talal; Conley, Mary Ellen; Cunningham-Rundles, Charlotte; Etzioni, Amos; Franco, Jose Luis; Gaspar, H. Bobby; Holland, Steven M.; Klein, Christoph; Nonoyama, Shigeaki; Ochs, Hans D.; Oksenhendler, Erik; Picard, Capucine; Puck, Jennifer M.; Sullivan, Kate und Tang, Mimi L. K.
(2014):
Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency.
In: Frontiers in Immunology, Bd. 5, 162
[PDF, 503kB]