Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Fabian Hauck"'
Autor:
Tim Niehues, Catherine Waruiru, Conleth Feighery, Uwe Schauer, Virginie Courteille, Kai Lehmberg, Ingo Müller, I. Esteves, Henner Morbach, Michael Borte, Patrick Hundsdoerfer, Klaus Schwarz, Ewelina Gowin, Alessandro Aiuti, Andreas Holbro, Federica Barzaghi, João Farela Neves, Dagmar Graf, Hannah Tamary, Veneta Milenova, Benedikt Boetticher, Eleonora Gambineri, Vera Goda, Alia Eldash, Jan-Christian Wasmuth, Fabio Candotti, Svetlana O. Sharapova, Markus Metzler, Juergen Brunner, Anna Hilfanova, Brindusa Ruxandra Capilna, Pere Soler-Palacín, Arnau Antolí, Horst von Bernuth, Vassilios Lougaris, Maria Carrabba, Bernd H. Belohradsky, Julian Thalhammer, Nathalie de Vergnes, Peter Olbrich, Peter Kopač, Leif G. Hanitsch, Alexandra Nieters, Filomeen Haerynck, Juliana Gabzdilova, Sezin Aydemir, Rabab El Hawary, Patrick F.K. Yong, Maria Giovanna Danieli, Alberto Tommasini, Sandra Steinmann, Ulrich Baumann, Figen Dogu, Elisabeth Förster-Waldl, Carolina Marasco, Donato Amodio, Lorenzo Lodi, Xavier Solanich, Caterina Cancrini, Brigita Sitkauskiene, Torsten Witte, Clementina Vanessa, Nima Rezaei, Jean-Christophe Goffard, Kirsten Wittke, Emmanouil Liatsis, Helen Baxendale, Susana L. Silva, Bodo Grimbacher, Henrike Ritterbusch, Evangelia Farmaki, Safa Meshaal, Sujal Ghosh, Larysa Kostyuchenko, David Edgar, Simone Cesaro, R Zeuner, Nerea Salmón Rodríguez, Isabella Quinti, Stephan Ehl, Pauline Brosselin, Joerg C. Henes, Pilar Llobet Agulló, Rosa Maria Dellepiane, Andrea Meinhardt, Marina Kojić, Georgios Sogkas, Stephan Borte, Catharina Schuetz, Suheyla Ocak, Karin Marschall, Lukas M. Gasteiger, Stefan Raffac, Sofia Tantou, Sadia Noorani, Matthaios Speletas, Philippe Randrianomenjanahary, Ursula Holzer, Ayca Kiykim, Johannes G. Liese, Angelo Vacca, Gisela Fecker, Ekrem Unal, Koen J. van Aerde, Alba Parra-Martínez, Kaan Boztug, Sophie Stiehler, Sybille Landwehr-Kenzel, Claudio Pignata, Jennifer Neubert, Janine Reichenbach, Shahnaz Parvin, Sarah Goddard, Andrea Schroll, Dirk Holzinger, Asghar Aghamohammadi, Hassan Abolhassani, Johannes Trück, Estela Paz-Artal, Shereen M. Reda, Anna Shcherbina, Maria Raptaki, Jaroslava Orosova, Beata Wolska-Kuśnierz, Tessa Kerre, Gerrit Ahrenstorf, Ben Zion Garty, Dirk Foell, Benjamin Becker, Ulrike F. Demel, Androniki Kapousouzi, Abraham Rutgers, Klaus Warnatz, Gemma Rocamora Blanch, Stephan Rusch, Luis M. Allende, Dalia Abd Elaziz, Safa Baris, Jorisvan Montfrans, Dominik T. Schneider, Raphael Scheible, Juana Gil-Herrera, Gerhard Kindle, Annarosa Soresina, Giovanna Fabio, Uwe Wintergerst, Emilia Faria, Maria Fasshauer, Silvia Ricci, Aisha Elmarsafy, Barbara Pietrucha, Carsten Speckmann, Nizar Mahlaoui, Ulrich Heininger, Isabelle Meyts, Matthew Buckland, Efimia Papadopoulou-Alataki, Robin Kobbe, A Herwadkar, Sebastian F. N. Bode, Ali Sobh, László Maródi, Baldassarre Martire, Chiara Azzari, Maximilian Heeg, Katja Masjosthusmann, Michael H. Albert, Matteo Chinello, Juan Luis Santos-Pérez, Aarnoud Huissoon, Tanya I. Coulter, Hendrik Schulze-Koops, Norbert Graf, Radwa Alkady, Jolanta Bernatoniene, Seraina Prader, Alenka Gagro, Joachim Roesler, Taco W. Kuijpers, Ewa Więsik-Szewczyk, Maria Elena Maccari, Conrad Ferdinand Lippert, Miriam González-Amores, Johannes Dirks, Daniel E Pleguezuelo, Christof M. Kramm, Anders Fasth, Volker Schuster, Olov Ekwall, Nikolaus Rieber, Javier Carbone, Petra Kaiser-Labusch, Diana Ernst, Lucia Augusta Baselli, Luis Ignacio Gonzalez-Granado, Maria Kanariou, Stefanie S. V. Henriet, Sigune Goldacker, Kerstin Felgentreff, Oana Joean, Fine Roosens, Fabian Hauck, Eva C. Schwaneck, Milos Jesenak, Manfred Hoenig, Lenka Kapustova, Christoph Boesecke, Alain Fischer, Sara Pereira da Silva, Julia Körholz, Ansgar Schulz, Carolynne Schwarze-Zander, Mikko Seppänen, Nermeen Galal, Nora Naumann-Bartsch, Tomaz Garcez, Peter Ciznar, Klara M. Posfay-Barbe, Zelimir Pavle Eric, Reinhold E. Schmidt, Hermann J. Girschick, Sabine Heine, Anika-Kerstin Biegner, Annick A. J. M. van de Ven, Stefan Schreiber, J. Merlijn van den Berg, Nurit Assia Batzir, Alexandra Jablonka, Kim Stol, Gregor Dückers, Antonios G.A. Kolios, Ioannis Kakkas, Christian Klemann, Marina N. Guseva, Sofia Grigoriadou, Elif Karakoc-Aydiner, Antonio Marzollo, Peter D. Arkwright, Urs C. Steiner, Sara Sebnem Kilic, Romina Dieli-Crimi, Gergely Kriván, Monika Sparber-Sauer, Marco Cazzaniga, Fulvio Porta, Paraskevi Maggina, Tomas Milota, Robbert G. M. Bredius, Martine Pergent, Klaus Tenbrock, Jana Pachlopnik Schmid, Florentia Dimitriou, Cathal Laurence Steele, Helen Bourne, Anna Bobcakova, Gerd Horneff, Judith Potjewijd, Marc Schmalzing, Tobias Ankermann, Paul Ryan, Oksana Boyarchuk, Necil Kutukculer, Carl Friedrich Classen, Zita Chovancová, Moira Thomas, Cinzia Milito, Michaela Bitzenhofer-Grüber, Faranaz Atschekzei, Eva Hlaváčková, Viviana Moschese, Julie Smet, Hans-Hartmut Peter, Carla Teixeira, Sabine M El-Helou, Suzanne de Kruijf Bazen, Helmut Wittkowski, Donate Jakoby, Marina Garcia-Prat, Esther de Vries, Richard Herriot, Sven Kracker, Alessandro Plebani, Lisa Göschl, Laura Hora Marques, Anna Sediva, Jiri Litzman, Mark M. Gompels, Renate Krüger, Şefika İlknur Kökçü Karadağ, Nadine Binder, Anna Szaflarska, Peter Jandus, Lisa Ibberson, Johann Greil, Ulf Schulze-Sturm, Mehtap Sirin, Aydan Ikinciogullari, Edyta Heropolitańska-Pliszka, Michael E. Weiss, Alla Skapenko, Lukas Wisgrill, Hana Alachkar, Uta Behrends, Silvia Sánchez-Ramón, Maria N. Hatzistilianou, Otilia Petrovicova, Darko Richter, Zoreh Nademi, Jürgen K. Rockstroh, Sohilla Lotfy, Markus G. Seidel, Timothy Ronan Leahy, Audra Blažienė
Publikováno v:
Journal of Allergy and Clinical Immunology, 148(5), 1332-1341.e5. MOSBY-ELSEVIER
Journal of allergy and clinical immunology, 148(5), 1332-1341.e5. Mosby Inc.
Journal of allergy and clinical immunology, 148(5), 1332-1341.e5. Mosby Inc.
BACKGROUND: Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a challenge. A better description of the initial presenting manifestations should improve awareness and avoid diagnostic delay. Although increased infection suscepti
Autor:
Johannes Hübner, Fabian Hauck, Katharina Schönberger, Anita Rack-Hoch, Maria-Sabine Ludwig, Martin Hoch
Publikováno v:
MMW - Fortschritte der Medizin. 161:48-53
Seit 2016 grassieren die Masern wieder in Europa. Auch Deutschland ist hiervon betroffen. Deshalb ist es wichtig, die Erkrankung schnell zu erkennen und die Ausbreitung zu verhindern. Besonders hohe Bedeutung haben die Infektionsschutzmasnahmen in Ge
Autor:
Musa Karakukcu, Atar Lev, Michael J Kraakman, Fabian Hauck, Christoph Klein, Erdener Özer, Nesrin Gulez, Kaan Boztug, Jordan S. Orange, Ivan K. Chinn, Ido Somekh, Alejandro Gallón Duque, Megumi Tatematsu, Meino Rohlfs, Raffaele Conca, Tala Shahin, Ginette Schiby, Eliana Appella, Claudia M. Trujillo-Vargas, Artem Kalinichenko, Marini Thian, Ekrem Unal, José Luis Franco, Turkan Patiroglu, David Medgyesi, Tali Stauber, Raz Somech, Alper Özcan, Amos J. Simon, Yu Nee Lee, Catalina Martinez-Jaramillo, Jeffrey M. Jacobson, Thomas Magg, Jasmin Dmytrus, Ferah Genel, Omer Akcal
Publikováno v:
Blood
Dysregulated immune responses are essential underlying causes of a plethora of pathologies including cancer, autoimmunity, and immunodeficiency. We here investigated 4 patients from unrelated families presenting with immunodeficiency, autoimmunity, a
Autor:
Philipp Peters, Christoph Walz, Eberhard Lurz, Tobias Schwerd, Michael H. Albert, Daniel Kotlarz, Martin Riester, Mohammad Samer Hajji, Anna-Lisa Lanz, Julia Ley-Zaporozhan, Christoph Klein, Meino Rohlfs, Fabian Hauck
Publikováno v:
Clinical immunology (Orlando, Fla.). 229
CTLA4-haploinsufficiency is a complex disease of immune dysregulation presenting with a broad spectrum of clinical manifestations. CTLA4-Fc fusion proteins such as abatacept have been described to alleviate immune dysregulation in several adult cases
Autor:
Hye Sun Kuehn, Ahmet Eken, Ekrem Unal, Julie E. Niemela, Christoph Klein, Alper Özcan, Meino Rohlfs, Fabian Hauck, Veysel Gok, Firdevs Aydin, Eda Odakir, Ebru Yilmaz, Musa Karakukcu, Turkan Patiroglu, Sergio D. Rosenzweig, Murat Cansever
Publikováno v:
J Pediatr Hematol Oncol
OBJECTIVE: Mutations in IKZF1, which encodes Ikaros family zinc finger 1 (IKAROS) transcription factor, are associated with recurrent infections, cytopenia, autoimmune diseases, and hematological malignancies. Diverse clinical phenotypes resulting fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0d93eb4b64c4deebee36b218c70d7f1
https://avesis.erciyes.edu.tr/publication/details/90d587b3-975c-40a5-82aa-538c94621774/oai
https://avesis.erciyes.edu.tr/publication/details/90d587b3-975c-40a5-82aa-538c94621774/oai
Autor:
Carsten Speckmann, Fabian Hauck, Manfred Hönig, U. Nennstiel, Volker Wahn, Ansgar Schulz, Catharina Schütz, Michael H. Albert, S. Borte
Publikováno v:
Monatsschrift Kinderheilkunde. 167:1027-1032
Ab August 2019 wird in Deutschland ein Neugeborenscreening (NGS) auf schwere kombinierte Immundefekte (SCID) eingefuhrt. Das SCID-NGS erfolgt mithilfe einer Polymerase-Kettenreaktion (PCR) zum Nachweis von „T-cell receptor excision circles“ (TREC
Autor:
Scott B. Snapper, Veit Hornung, Hans Clevers, Moritz M. Gaidt, Nadine Yazbeck, Fabian Hauck, Rima Hanna-Wakim, Katja Lammens, Philip Bufler, Yue Li, Aleixo M. Muise, Maryam Ghalandary, Birgitta E. Michels, Anna S. Lehle, Henner F. Farin, Raffaele Conca, Thomas Magg, Batia Weiss, Yanshan Liu, Sibylle Koletzko, Atar Lev, Neil Warner, Olaf Groß, Daniel Kotlarz, Amos J. Simon, Christoph Walz, Christoph Klein, Sebastian Hollizeck, Benjamin Marquardt, Raz Somech, Dror S. Shouval, Meino Rohlfs
Publikováno v:
Gastroenterology, 156(1), 275-278. W.B. Saunders Ltd
Gastroenterology, 156(1), 275. W.B. Saunders Ltd
Gastroenterology, 156(1), 275. W.B. Saunders Ltd
Caspase-8 (CASP8) is a protease that initiates apoptosis and regulates inflammation and immune responses. We identified germline mutations in CASP8 in 3 unrelated patients with infant-onset inflammatory bowel disease: 2 patients were homozygous for t
Autor:
Kathleen E. Sullivan, Paul Gray, Debayan Dey, Lars M. Koenig, Daniel F. R. Boehmer, Davide Montin, Matthias Griese, Tomohiro Morio, Tsubasa Okano, Hirokazu Kanegane, Thomas Magg, Francesco Licciardi, Samantha L. Schwartz, Julia Ley-Zaporozhan, Andrés Caballero-Oteyza, Meino Rohlfs, Karl Reiter, Esther N. Park, Jennifer Heimall, Kazutoshi Cho, Michael H. Albert, Brenda M. Calderon, Kento Inoue, Christoph Walz, Christoph Klein, Fabian Hauck, Ronald M. Ferdman, Graeme L. Conn
Analysis of autoinflammatory and immunodeficiency disorders elucidates human immunity and fosters the development of targeted therapies. Oligoadenylate synthetase 1 is a type I interferon-induced, intracellular double-stranded RNA (dsRNA) sensor that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c5d3086f2b9ce81b7c525bee36de15a
https://hdl.handle.net/2318/1878269
https://hdl.handle.net/2318/1878269
Autor:
Christopher J. Mungall, Matthias Haimel, Fabian Hauck, Marc Hanauer, Nicolas Matentzoglu, Ganna Balagura, Ingo Helbig, Julie A. McMurry, Avi Z. Rosenberg, Amy Brower, Johanna L. Est, Julia Pazmandi, Maximilian Hastreiter, Melissa A. Haendel, Peter D. Galer, Nomi L. Harris, Gerhard Kindle, Michael Hartnett, Daniel Danis, Hugh Kearney, Shiva Ganesan, Yongqun He, Michael A. Gargano, Rebecca L. Peters, Matthias Griese, Roland Krause, Damian Smedley, Shahmir A. Rind, Katrin Knoflach, Tim Jeske, Gareth Baynam, Peter N. Robinson, Michael M. Segal, Leigh C. Carmody, David Lagorce, Monica Munoz-Torres, Christopher G. Chute, Christoph Klein, Zafer Yüksel, Jillian A. Miller, Tomer Talmy, Christina K Rapp, Julie Xian, Tiffany J. Callahan, Samuel A. Wiafe, David Lewis-Smith, Ana Rath, Nicole Vasilevsky, Yarlalu Thomas, Markus G. Seidel, Sebastian Köhler
Publikováno v:
Nucleic Acids Research, 2021, Vol. 49
Nucleic Acids Research
Nucleic Acids Research
The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for
Autor:
Liliana Bezrodnik, Vijay G. Sankaran, Silvia Sánchez-Ramón, Peter Mustillo, Michael A. Keller, Isabelle Meyts, Giorgia Bucciol, Yesim Yilmaz Demirdag, Luis Ignacio Gonzalez-Granado, Andrew R. Gennery, Alexandra F. Freeman, Raffaele Badolato, Alain Fischer, Safa Baris, Federica Barzaghi, Sudhir Gupta, Carlo Agostini, Gulbu Uzel, Kissy Guevara-Hoyer, Isabella Quinti, M. Cecilia Poli, Charlotte Cunningham-Rundles, Stephen Jolles, Elif Karakoc-Aydiner, Alessandro Aiuti, Cinzia Milito, Fabian Hauck, Angel Robles-Marhuenda, Stuart G. Tangye, Marco Yamazaki-Nakashimada, Elena Seoane, Sara Elva Espinosa-Padilla, Pierre Yves Jeandel, Kathleen E. Sullivan, Klaus Warnatz, Claire Fieschi, Cedric Bosteels, Alessandro Plebani, Leonardo Oliveira Mendonça, Carla Gianelli, François Vermeulen, Bart N. Lambrecht, Annarosa Soresina, Virgil A. S. H. Dalm, Selma Scheffler-Mendoza, Catherine Paillard, Eduardo López-Granados, Vassilios Lougaris, Ahmet Ozen, Grant Hayman, Nizar Mahlaoui, Yazmin Espinosa, Bénédicte Neven, Giuseppe Spadaro, Roshini S. Abraham
Publikováno v:
Journal of Allergy and Clinical Immunology, 147(2), 520-531. Mosby Inc.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
The Journal of Allergy and Clinical Immunology
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
The Journal of Allergy and Clinical Immunology
BACKGROUND: There is uncertainty about the impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in individuals with rare inborn errors of immunity (IEI), a population at risk of developing severe coronavirus disease 2019.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7df8a4f418446632e540a4acb9b2fcd
https://hdl.handle.net/11588/910395
https://hdl.handle.net/11588/910395