Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Fabian Hauck"'
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:
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:
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:
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:
Seham Alameer, Tobias Schwerd, Giuseppe Indolfi, Joseph A. Church, Adelheid Cerwenka, Dominic Lenz, Ivo Barić, Jidnyasa Gujar, Thomas Giese, Johann Greil, Christian Staufner, Jens Pahl, Felix Distelmaier, Georg F. Hoffmann, Eberhard Lurz, Nikolas Boy, Anke Dick, Bianca Peters, Ellen Crushell, Holger Prokisch, Christoph Klein, Meena Balasubramanian, Stefan Kölker, Fabian Hauck, Daniele Serranti
Publikováno v:
J. Clin. Immunol., DOI: 10.1007/s10875-021-01110-7 (2021)
Journal of Clinical Immunology
Journal of Clinical Immunology
Purpose Biallelic pathogenic NBAS variants manifest as a multisystem disorder with heterogeneous clinical phenotypes such as recurrent acute liver failure, growth retardation, and susceptibility to infections. This study explores how NBAS-associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7176568d4fc4003562f22a1716e15672
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62807
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62807
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
Autor:
Petr Sedlacek, Susanne Matthes, Polina Stepensky, Caroline A. Lindemans, Junfeng Wang, Jolanta Gozdzik, Manfred Hoenig, Krzysztof Kałwak, Juliana F Fernandes, Su Han Lum, Brigitte Strahm, Matthias Felber, Bénédicte Neven, Arjan C. Lankester, Amal Al Seraihy, Mervi Taskinen, Ansgar Schulz, Tayfun Güngör, Franco Locatelli, Andrew R. Gennery, Mathias Hauri-Hohl, Giovanna Lucchini, Michael H. Albert, Sheree Hazelaar, Despina Moshous, Robert Wynn, Fulvio Porta, Henric Jan Blok, Brenda Gibson, Marco Zecca, Paul Veys, Fabian Hauck, Per Ljungman, Urs Schanz, Dmitry Balashov, Serap Aksoylar, Robert Chiesa, Karl Walter Sykora, Musa Karakukcu, Mary Slatter
Publikováno v:
Blood, 136(10), 1201-1211. AMER SOC HEMATOLOGY
Chronic granulomatous disease (CGD) is a primary immunodeficiency resulting in life-threatening infections and inflammatory complications. Allogeneic hematopoietic cell transplantation (allo-HCT) can cure the disease, but the indication to transplant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbc3dc7a0020fc1644f2e73747ec8ba2
http://hdl.handle.net/1887/3184828
http://hdl.handle.net/1887/3184828
Autor:
Jörn-Sven Kühl, Joachim Roesler, Stéphane Blanche, Michael H. Albert, Nizar Mahlaoui, Carsten Speckmann, Alain Fischer, Johannes H. Schulte, Klaus Warnatz, Fabian Hauck, Ulrich Baumann, Horst von Bernuth, Cinzia Dedieu, Christian M. Hedrich
Publikováno v:
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyREFERENCES. 32(3)
Background: Hematopoietic stem cell transplantation (HSCT) can cure chronic granulomatous disease (CGD), but it remains debated whether all conventionally treated CGD patients benefit from HSCT. Methods: We retrospectively analyzed 104 conventionally
Autor:
Sugirthan Sivalingam, Sheetal Kumar, Karl Heinz Grzeschik, Fabian Hauck, Xiujuan Sun, Armand Bottani, Janine Altmüller, Shangzhi Dai, Peter M. Kroisel, Fanny Kortüm, Aytaj Humbatova, Scott D. Walter, Yuan Wu, Wen Qin, Xinwu Niu, Mingyang Lee, Regina C. Betz, Gianluca Tadini, Kerstin Kutsche, Andreas Buness, Katta M. Girisha, Songmei Geng, Maria Teresa Romano, Huijun Wang, Yuanxiang Liu, Lin Ma, Susanne Motameny, Shuxia Yang, Nicole Cesarato, Zhimiao Lin, Xiaopeng Wang, Ran Mo, Anne Marie Calza, Dorothea Bornholdt
Publikováno v:
Am J Hum Genet
IFAP syndrome is a rare genetic disorder characterized by ichthyosis follicularis, atrichia, and photophobia. Previous research found that mutations in MBTPS2, encoding site-2-protease (S2P), underlie X-linked IFAP syndrome. The present report descri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a9680a4ec39a1ad19d3c325026208f5
https://europepmc.org/articles/PMC7332643/
https://europepmc.org/articles/PMC7332643/
Autor:
Sabine M. El-Helou, Anika-Kerstin Biegner, Sebastian Bode, Stephan R. Ehl, Maximilian Heeg, Maria E. Maccari, Henrike Ritterbusch, Carsten Speckmann, Stephan Rusch, Raphael Scheible, Klaus Warnatz, Faranaz Atschekzei, Renata Beider, Diana Ernst, Stev Gerschmann, Alexandra Jablonka, Gudrun Mielke, Reinhold E. Schmidt, Gesine Schürmann, Georgios Sogkas, Ulrich H. Baumann, Christian Klemann, Dorothee Viemann, Horst von Bernuth, Renate Krüger, Leif G. Hanitsch, Carmen M. Scheibenbogen, Kirsten Wittke, Michael H. Albert, Anna Eichinger, Fabian Hauck, Christoph Klein, Anita Rack-Hoch, Franz M. Sollinger, Anne Avila, Michael Borte, Stephan Borte, Maria Fasshauer, Anja Hauenherm, Nils Kellner, Anna H. Müller, Anett Ülzen, Peter Bader, Shahrzad Bakhtiar, Jae-Yun Lee, Ursula Heß, Ralf Schubert, Sandra Wölke, Stefan Zielen, Sujal Ghosh, Hans-Juergen Laws, Jennifer Neubert, Prasad T. Oommen, Manfred Hönig, Ansgar Schulz, Sandra Steinmann, Klaus Schwarz, Gregor Dückers, Beate Lamers, Vanessa Langemeyer, Tim Niehues, Sonu Shai, Dagmar Graf, Carmen Müglich, Marc T. Schmalzing, Eva C. Schwaneck, Hans-Peter Tony, Johannes Dirks, Gabriele Haase, Johannes G. Liese, Henner Morbach, Dirk Foell, Antje Hellige, Helmut Wittkowski, Katja Masjosthusmann, Michael Mohr, Linda Geberzahn, Christian M. Hedrich, Christiane Müller, Angela Rösen-Wolff, Joachim Roesler, Antje Zimmermann, Uta Behrends, Nikolaus Rieber, Uwe Schauer, Rupert Handgretinger, Ursula Holzer, Jörg Henes, Lothar Kanz, Christoph Boesecke, Jürgen K. Rockstroh, Carolynne Schwarze-Zander, Jan-Christian Wasmuth, Dagmar Dilloo, Brigitte Hülsmann, Stefan Schönberger, Stefan Schreiber, Rainald Zeuner, Tobias Ankermann, Philipp von Bismarck, Hans-Iko Huppertz, Petra Kaiser-Labusch, Johann Greil, Donate Jakoby, Andreas E. Kulozik, Markus Metzler, Nora Naumann-Bartsch, Bettina Sobik, Norbert Graf, Sabine Heine, Robin Kobbe, Kai Lehmberg, Ingo Müller, Friedrich Herrmann, Gerd Horneff, Ariane Klein, Joachim Peitz, Nadine Schmidt, Stefan Bielack, Ute Groß-Wieltsch, Carl F. Classen, Jessica Klasen, Peter Deutz, Dirk Kamitz, Lisa Lassay, Klaus Tenbrock, Norbert Wagner, Benedikt Bernbeck, Bastian Brummel, Eusebia Lara-Villacanas, Esther Münstermann, Dominik T. Schneider, Nadine Tietsch, Marco Westkemper, Michael Weiß, Christof Kramm, Ingrid Kühnle, Silke Kullmann, Hermann Girschick, Christof Specker, Elisabeth Vinnemeier-Laubenthal, Henriette Haenicke, Claudia Schulz, Lothar Schweigerer, Thomas G. Müller, Martina Stiefel, Bernd H. Belohradsky, Veronika Soetedjo, Gerhard Kindle, Bodo Grimbacher
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
FRONTIERS IN IMMUNOLOGY
Frontiers in Immunology
Frontiers in immunology 10, 1272 (2019). doi:10.3389/fimmu.2019.01272
FRONTIERS IN IMMUNOLOGY
Frontiers in Immunology
Frontiers in immunology 10, 1272 (2019). doi:10.3389/fimmu.2019.01272
Introduction: The German PID-NET registry was founded in 2009, serving as the first national registry of patients with primary immunodeficiencies (PID) in Germany. It is part of the European Society for Immunodeficiencies (ESID) registry. The primary