Zobrazeno 1 - 10
of 111
pro vyhledávání: '"Fabian Hauck"'
Autor:
Thomas Wimmer, Raphael Mattes, Hans-Joachim Stemmler, Fabian Hauck, Hendrik Schulze-Koops, Stephanie-Susanne Stecher, Michael Starck, Clemens-Martin Wendtner, Peter Bojko, Marcus Hentrich, Katharina E. Nickel, Katharina S. Götze, Florian Bassermann, Michael von Bergwelt-Baildon, Karsten Spiekermann
Publikováno v:
Blood Advances. 7:832-844
Hemophagocytic lymphohistiocytosis (HLH) is a rare but often fatal hyperinflammatory syndrome caused by an inborn or acquired error of immunity. In adults, the underlying immunodeficiency generally arises alongside severe infections, malignancies, au
Autor:
Michael H. Albert, Tiarlan Sirait, Dirk-Jan Eikema, Katerina Bakunina, Claudia Wehr, Felipe Suarez, Maria Laura Fox, Nizar Mahlaoui, Andrew R. Gennery, Arjan C. Lankester, Rita Beier, Maria Ester Bernardo, Venetia Bigley, Caroline A. Lindemans, Siobhan O. Burns, Ben Carpenter, Jaroslaw Dybko, Tayfun Güngör, Fabian Hauck, Su Han Lum, Dmitry Balashov, Roland Meisel, Despina Moshous, Ansgar Schulz, Carsten Speckmann, Mary A. Slatter, Brigitte Strahm, Duygu Uckan-Cetinkaya, Isabelle Meyts, Tanja C. Vallée, Robert Wynn, Bénédicte Neven, Emma C. Morris, Alessandro Aiuti, Alexei Maschan, Mahmoud Aljurf, Tobias Gedde-Dahl, Gunhan Gurman, Victoria Bordon, Gergely Kriván, Franco Locatelli, Fulvio Porta, David Valcárcel, Yves Beguin, Maura Faraci, Nicolaus Kröger, Aleksandr Kulagin, Peter J. Shaw, Joan Hendrik Veelken, Cristina Diaz de Heredia, Franca Fagioli, Matthias Felber, Bernd Gruhn, Wolfgang Holter, Claudia Rössig, Petr Sedlacek, Jane Apperley, Mouhab Ayas, Ivana Bodova, Goda Choi, J.J. Cornelissen, Anne Sirvent, Anjum Khan, Alphan Kupesiz, Stig Lenhoff, Hakan Ozdogu, Nicolas von der Weid, Montserrat Rovira, Rik Schots, Donald C. Vinh
Publikováno v:
Blood. 140:1635-1649
Allogeneic hematopoietic stem cell transplantation (HSCT) is the gold standard curative therapy for infants and children with many inborn errors of immunity (IEI), but adolescents and adults with IEI are rarely referred for transplant. Lack of publis
Autor:
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M. Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schülke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C. Betz, Tim Bender, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Spier Isabel, Heimbach André, Bender Tim, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin S. Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J. Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva M. C. Schwaibold, Christian P. Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M. Okun, Urania Kotzaeridou, Georg F. Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik S. Westphal, Tim Strom, Reka Kovacs, Korbinian M. Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Vill Katharina, Fabian Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R. Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J. Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Nöthen, Olaf Riess, Thomas Meitinger, Heiko Krude, Peter M. Krawitz, Tobias Haack, Nadja Ehmke, Matias Wagner
Most individuals with rare diseases initially consult their primary care physician. For a subset of rare diseases, efficient diagnostic pathways are available. However, ultra-rare diseases often require both expert clinical knowledge and comprehensiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51d2fffa10e3858a273179e9636175f6
https://doi.org/10.1101/2023.04.19.23288824
https://doi.org/10.1101/2023.04.19.23288824
Autor:
Xinyuan Wang, Huabin Zhang, Yuqin Wang, Laylan Bramasole, Kai Guo, Fatima Mourtada, Thomas Meul, Qianjiang Hu, Valeria Viteri, Ilona Kammerl, Melanie Konigshoff, Mareike Lehmann, Thomas Magg, Fabian Hauck, Isis E Fernandez, Silke Meiners
Publikováno v:
The EMBO Journal. 42
Autor:
Carsten Speckmann, Uta Nennstiel, Manfred Hönig, Michael H. Albert, Sujal Ghosh, Catharina Schuetz, Inken Brockow, Friederike Hörster, Tim Niehues, Stephan Ehl, Volker Wahn, Stephan Borte, Kai Lehmberg, Ulrich Baumann, Rita Beier, Renate Krüger, Shahrzad Bakhtiar, Joern-Sven Kuehl, Christian Klemann, Udo Kontny, Ursula Holzer, Andrea Meinhardt, Henner Morbach, Nora Naumann-Bartsch, Tobias Rothoeft, Alexandra Y. Kreins, E. Graham Davies, Dominik T. Schneider, Horst v. Bernuth, Thomas Klingebiel, Georg F. Hoffmann, Ansgar Schulz, Fabian Hauck
Publikováno v:
Journal of Clinical Immunology.
Backgr ound T-cell receptor excision circle (TREC)-based newborn screening (NBS) for severe combined immunodeficiencies (SCID) was introduced in Germany in August 2019. Methods Children with abnormal TREC-NBS were referred to a newly established netw
Autor:
Tom Le Voyer, Adrian Gervais, Jérémie Rosain, Audrey Parent, Axel Cederholm, Darawan Rinchai, Lucy Bizien, Gonca Hancioglu, Quentin Philippot, Mame Sokhna Gueye, Majistor Raj Luxman, Maglorius Renkilaraj, Masato Ogishi, Camille Soudée, Mélanie Migaud, Flore Rozenberg, Mana Momenilandi, Quentin Riller, Luisa Imberti, Ottavia Delmonte, Gabriele Müller, Bärbel Keller, Julio Orrego, William Alexander Gallego, Tamar Rubin, Melike Emiroglu, Nima Parvaneh, Daniel Eriksson, Maribel Aranda-Guillen, David I Berrios, Linda Vong, Connie H Katelaris, Peter Mustillo, Johannes Rädler, Jonathan Bohlen, Jale Bengi Celik, Camila Astudillo, Sarah Winter, Audrey Guichard, Vivien Béziat, Jacinta Bustamante, Qiang Pan-Hammarström, Yu Zhang, Lindsey B Rosen, Steve M Holland, Heather Kenney, Kaan Boztuğ, Nizar Mahlaoui, Sylvain Latour, Roshini Abraham, Vassilios Lougaris, Fabian Hauck, Anna Sediva, Faranaz Atschekzei, M Cecilia Poli, Mary A Slatter, Boaz Palterer, Michael D Keller, Alberto Pinzon-Charry, Anna Sullivan, Luke Droney, Daniel Suan, Nathalie Aladjidi, Miguel Hie, Estibaliz Lazaro, Jose Franco, Sevgi Keles, Marion Malphette, Marlene Pasquet, Maria Elena Maccari, Andrea Meinhardt, Aydan Ikinciogullari, Mohammad Shahrooei, Fatih Celmeli, Patrick Frosk, Christopher C Goodnow, Paul E Gray, Alexandre Belot, Hye Sun Kuehn, Sergio D Rosenzweig, Francesco Licciardi, Amélie Servettaz, Vincent Barlogis, Guillaume Le Guenno, Vera-Maria Herrmann, Taco Kuijpers, Grégoire Ducoux, Françoise Sarrot-Reynauld, Catharina Schuetz, Charlotte Cunningham-Rundles, Frédéric Rieux-Laucat, Stuart G Tangye, Cristina Sobacchi, Rainer Doffinger, Klaus Warnatz, Bodo Grimbacher, Claire Fieschi, Laureline Berteloot, Vanessa Bryant, Sophie Trouillet Assant, Luigi D Notarangelo, Helen Su, Benedicte Neven, Laurent Abel, Qian Zhang, Bertrand Boisson, Aurélie Cobat, Emmanuelle Jouanguy, Olle Kampe, Paul Bastard, Chaim Roifman, Nils Landegren, Mark S Anderson, Jean-Laurent Casanova, Anne Puel
Patients with inborn errors of the alternative NF-κB pathway have low thymic AIRE expression, leading to the development of auto-Abs neutralizing type I IFNs, and severe viral diseases.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eb3fe31795f551fbeac7e72b123ffd53
https://doi.org/10.22541/au.167330741.18394805/v1
https://doi.org/10.22541/au.167330741.18394805/v1
Autor:
Corinna Grasemann, Jakob Höppner, Peter Burgard, Michael M. Schündeln, Nora Matar, Gabriele Müller, Heiko Krude, Reinhard Berner, Min Ae Lee-Kirsch, Fabian Hauck, Kerstin Wainwright, Sylvana Baumgarten, Janet Atinga, Jens J. Bauer, Eva Manka, Julia Körholz, Cordula Kiewert, André Heinen, Tanita Kretschmer, Tobias Kurth, Janna Mittnacht, Christoph Schramm, Christoph Klein, Holm Graessner, Olaf Hiort, Ania C. Muntau, Annette Grüters, Georg F. Hoffmann, Daniela Choukair
Purpose The transition process from paediatric/adolescent to adult medical care settings is of utmost importance for the future health of adolescents with chronic diseases and poses even more difficulties in the context of rare diseases (RDs). Paedia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c17cceab7503935ca8c14d6eeeb8b1c
https://www.ncbi.nlm.nih.gov/pubmed/37098531
https://www.ncbi.nlm.nih.gov/pubmed/37098531
Autor:
Paulina Staus, Stephan Rusch, Sabine El-Helou, Gabriele Müller, Máté Krausz, Ulf Geisen, Andrés Caballero-Oteyza, Renate Krüger, Shahrzad Bakhtiar, Min Ae Lee-Kirsch, Maria Fasshauer, Ulrich Baumann, Bimba Franziska Hoyer, João Farela Neves, Michael Borte, Maria Carrabba, Fabian Hauck, Stephan Ehl, Peter Bader, Horst von Bernuth, Faranaz Atschekzei, Mikko R. J. Seppänen, Klaus Warnatz, Alexandra Nieters, Gerhard Kindle, Bodo Grimbacher
Funding Information: The documentation specialist S.E-H. was funded by the Federal Ministry of Education and Research (BMBF, Support Code: 01GM1517C), by the European Society for Immunodeficiencies (ESID), 2018, by the Care-for-Rare Foundation, by PR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23e214c1af43f2e99ff7514cb950f136
https://hdl.handle.net/10362/152437
https://hdl.handle.net/10362/152437
Autor:
Daniela Choukair, Min Ae Lee-Kirsch, Reinhard Berner, Corinna Grasemann, Olaf Hiort, Fabian Hauck, Christoph Klein, Diana Druschke, Georg F. Hoffmann, Peter Burgard
Publikováno v:
Monatsschrift Kinderheilkunde. 170:52-60
Zusammenfassung Hintergrund Seltene Erkrankungen (SE) manifestieren sich ganz überwiegend im Kindes- und Jugendalter, sind heterogen, multisystemisch, haben meist einen chronischen Verlauf und stellen eine große Herausforderung für alle Beteiligte
Autor:
Linlin Yang, Fabian Hauck, Anna Lena Horn, Franz Quehenberger, Martin Benesch, Markus G. Seidel, Maria Anna Smolle, Victoria K. Tesch
Publikováno v:
Journal of Clinical Immunology. 42:484-498
Quantifying the phenotypic features of rare diseases such as inborn errors of immunity (IEI) helps clinicians make diagnoses, classify disorders, and objectify the disease severity at its first presentation as well as during therapy and follow-up. Fu