Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Fabian Hauck"'
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:
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:
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
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:
Masato Ogishi, Rui Yang, Rémy Rodriguez, Dominic P. Golec, Emmanuel Martin, Quentin Philippot, Jonathan Bohlen, Simon J. Pelham, Andrés Augusto Arias, Taushif Khan, Manar Ata, Fatima Al Ali, Flore Rozenberg, Xiao-Fei Kong, Maya Chrabieh, Candice Laine, Wei-Te Lei, Ji Eun Han, Yoann Seeleuthner, Zenia Kaul, Emmanuelle Jouanguy, Vivien Béziat, Leila Youssefian, Hassan Vahidnezhad, V. Koneti Rao, Bénédicte Neven, Claire Fieschi, Davood Mansouri, Mohammad Shahrooei, Sevgi Pekcan, Gulsum Alkan, Melike Emiroğlu, Hüseyin Tokgöz, Jouni Uitto, Fabian Hauck, Jacinta Bustamante, Laurent Abel, Sevgi Keles, Nima Parvaneh, Nico Marr, Pamela L. Schwartzberg, Sylvain Latour, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis
Publikováno v:
Journal of Experimental Medicine. 220
Inborn errors of IFN-γ immunity can underlie tuberculosis (TB). We report three patients from two kindreds without EBV viremia or disease but with severe TB and inherited complete ITK deficiency, a condition associated with severe EBV disease that r
Autor:
Fabian Hauck, Johannes Raedler, Thomas Magg, Michael H. Albert, Tanja Vallée, Christoph Klein, Meino Rohlfs
Publikováno v:
Journal of Clinical Immunology
Bi-allelic variants in the dedicator of cytokinesis 8 (DOCK8) gene cause a combined immunodeficiency, characterized by recurrent sinopulmonary and skin infections, food allergies, eczema, eosinophilia, and elevated IgE. Long-term outcome is poor give
Autor:
Linlin Yang, Claire Booth, Carsten Speckmann, Markus G. Seidel, Austen J.J. Worth, Gerhard Kindle, Arjan C. Lankester, Bodo Grimbacher, Andrew R. Gennery, Mikko R.J. Seppanen, Emma C. Morris, Siobhan O. Burns, Anna Sediva, Benedicte Neven, Fabian Hauck, Klaus Warnatz, Malgorzata Pac, Maria Carrabba, Pere Palacin, Peter Jandus, Ann Gardulf, Nizar Mahlaoui, Martine Pergent, Catharina Schutz, Svetlana Sharapova, Lougaris Vassilios, Fabio Candotti, Stephano Volpi
Publikováno v:
Journal of Allergy and Clinical Immunology: In Practice, 150(2), 456-466. ELSEVIER
Background: X-linked inhibitor of apoptosis (XIAP) deficiency is a rare primary immunodeficiency disease caused by XIAP gene mutations. A broad range of phenotype, severity, and age at onset present challenges for patient management.Objective: We sou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00befebbe6490b40844af71754643614
https://hdl.handle.net/1887/3575913
https://hdl.handle.net/1887/3575913
Autor:
Sebastian A. Schroeder, Giancarlo la Marca, Fabian Hauck, Anna Eichinger, Horst von Bernuth, Cinzia Dedieu, Michael H. Albert
Publikováno v:
Journal of clinical immunology, 41(5):11121115
Journal of Clinical Immunology
Journal of Clinical Immunology
Autor:
Pere Soler-Palacín, Larysa Kostyuchenko, Peter Bader, Catharina Schuetz, Shereen M. Reda, Ruth Pia Duecker, Bodo Grimbacher, Sharhzad Bakhtiar, Nizar Mahlaoui, Ralf Schubert, Dagmar Graf, Juan Luis Santos Pérez, E.V. Deripapa, Necil Kutukculer, Claudio Pignata, Seraina Prader, Isabelle Meyts, Maria Kanariou, Markus G. Seidel, Sandra Woelke, Peter Ciznar, Aileen Buecker, Stephan Ehl, Koen J. van Aerde, E. Graham Davies, Carlos Rodríguez-Gallego, Sabine Huenecke, Fabian Hauck, Gerhard Kindle, Hermann Kreyenberg, John David M Edgar, Tim Niehues, Hans-Juergen Laws, Helena Donath, Kai Lehmberg, Barbara Pietrucha, Mary Slatter, Renate Krueger, Elizabeth M. McDermott, Nermeen Galal, Michiel van der Flier, Claire Bethune, Horst von Bernuth, Peter D. Arkwright, Laura Hora Marques, Ismail Reisli, Stefan Zielen, Ulrich Baumann, Luis Ignacio Gonzalez Granado, Sara Sebnem Kilic, Sabine M El-Helou, Alessandro Plebani, Svetlana O. Sharapova
Publikováno v:
Journal of Clinical Immunology, 41, 1878-1892
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Scientia
Journal of Clinical Immunology, 41, 8, pp. 1878-1892
Journal of Clinical Immunology
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Scientia
Journal of Clinical Immunology, 41, 8, pp. 1878-1892
Journal of Clinical Immunology
Patients with ataxia-telangiectasia (A-T) suffer from progressive cerebellar ataxia, immunodeficiency, respiratory failure, and cancer susceptibility. From a clinical point of view, A-T patients with IgA deficiency show more symptoms and may have a p
Autor:
Ludmila Perelygina, Raeesa Faisthalab, Emily Abernathy, Min-hsin Chen, LiJuan Hao, Lionel Bercovitch, Diana K. Bayer, Lenora M. Noroski, Michael T. Lam, Maria Pia Cicalese, Waleed Al-Herz, Arti Nanda, Joud Hajjar, Koen Vanden Driessche, Shari Schroven, Julie Leysen, Misha Rosenbach, Philipp Peters, Johannes Raedler, Michael H. Albert, Roshini S. Abraham, Hemalatha G. Rangarjan, David Buchbinder, Lisa Kobrynski, Anne Pham-Huy, Julie Dhossche, Charlotte Cunningham Rundles, Anna K. Meyer, Amy Theos, T. Prescott Atkinson, Amy Musiek, Mehdi Adeli, Ute Derichs, Christoph Walz, Renate Krüger, Horst von Bernuth, Christoph Klein, Joseph Icenogle, Fabian Hauck, Kathleen E. Sullivan
Publikováno v:
Frontiers in Immunology
Frontiers in immunology
Frontiers in Immunology, Vol 12 (2021)
Frontiers in immunology
Frontiers in Immunology, Vol 12 (2021)
Rubella virus (RuV) has recently been found in association with granulomatous inflammation of the skin and several internal organs in patients with inborn errors of immunity (IEI). The cellular tropism and molecular mechanisms of RuV persistence and