Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Joachim Roesler"'
Autor:
Leonora Pietzsch, Julia Körholz, Felix Boschann, Mildred Sergon, Batsukh Dorjbal, Debra Yee, Vanessa Gilly, Eva Kämmerer, Diana Paul, Clemens Kastl, Martin W. Laass, Reinhard Berner, Eva Maria Jacobsen, Joachim Roesler, Daniela Aust, Min A. Lee-Kirsch, Andrew L. Snow, Catharina Schuetz
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
BackgroundAtopic dermatitis (AD) affects up to 25% of children and 10% of adults in Western countries. When severe or recurrent infections and exceedingly elevated serum IgE levels occur in AD patients, an inborn error of immunity (IEI) may be suspec
Externí odkaz:
https://doaj.org/article/487c8eb9c02344a7b43a10dc927e48f3
Autor:
Marcin Łyszkiewicz, Natalia Ziętara, Laura Frey, Ulrich Pannicke, Marcel Stern, Yanshan Liu, Yanxin Fan, Jacek Puchałka, Sebastian Hollizeck, Ido Somekh, Meino Rohlfs, Tuğba Yilmaz, Ekrem Ünal, Musa Karakukcu, Türkan Patiroğlu, Christina Kellerer, Ebru Karasu, Karl-Walter Sykora, Atar Lev, Amos Simon, Raz Somech, Joachim Roesler, Manfred Hoenig, Oliver T. Keppler, Klaus Schwarz, Christoph Klein
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
FCH domain only 1 (FCHO1) is a key molecule involved in clathrin-mediated endocytosis (CME). Here, the authors report homozygous FCHO1 mutations in individuals with variable T and B cell lymphopenia, which are associated with loss-of-function of FCHO
Externí odkaz:
https://doaj.org/article/74724d48da6d4ad88e09abfe678d8216
Autor:
Sören Reinke, Mary Linge, Hans H. Diebner, Hella Luksch, Silke Glage, Anne Gocht, Avril A.B. Robertson, Matthew A. Cooper, Sigrun R. Hofmann, Ronald Naumann, Mihail Sarov, Rayk Behrendt, Axel Roers, Frank Pessler, Joachim Roesler, Angela Rösen-Wolff, Stefan Winkler
Publikováno v:
Cell Reports, Vol 30, Iss 8, Pp 2501-2511.e5 (2020)
Summary: Pro-inflammatory caspase-1 is a key player in innate immunity. Caspase-1 processes interleukin (IL)-1β and IL-18 to their mature forms and triggers pyroptosis. These caspase-1 functions are linked to its enzymatic activity. However, loss-of
Externí odkaz:
https://doaj.org/article/74fb798b60c44e228c9f140d7cdb5c28
Autor:
Anna-Lena Neehus, Jenny Lam, Kathrin Haake, Sylvia Merkert, Nico Schmidt, Adele Mucci, Mania Ackermann, Madline Schubert, Christine Happle, Mark Philipp Kühnel, Patrick Blank, Friederike Philipp, Ralph Goethe, Danny Jonigk, Ulrich Martin, Ulrich Kalinke, Ulrich Baumann, Axel Schambach, Joachim Roesler, Nico Lachmann
Publikováno v:
Stem Cell Reports, Vol 10, Iss 1, Pp 7-16 (2018)
Summary: Mendelian susceptibility to mycobacterial disease (MSMD) is caused by inborn errors of interferon gamma (IFNγ) immunity and is characterized by severe infections by weakly virulent mycobacteria. Although IFNγ is the macrophage-activating f
Externí odkaz:
https://doaj.org/article/5ff42fcd6204401ca253decebf56355d
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)
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
Externí odkaz:
https://doaj.org/article/e9075140b79b4c8c90ad31f540d2800a
Autor:
Daniel Soukup, Alma Kuechler, Joachim Roesler, Leopold Pichlmaier, Maximillian Eckerland, Margarete Olivier, Florian Stehling
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
We report the case of a 19-years-old patient who presented with a perplexing variety of symptoms which included remarkable facial features, intellectual disability, granulomatous upper lip swelling (previously diagnosed as Melkersson–Rosenthal synd
Externí odkaz:
https://doaj.org/article/fa0034224f4c40cc920931cf9e6c8aba
Autor:
Marcin Łyszkiewicz, Natalia Ziętara, Laura Frey, Ulrich Pannicke, Marcel Stern, Yanshan Liu, Yanxin Fan, Jacek Puchałka, Sebastian Hollizeck, Ido Somekh, Meino Rohlfs, Tuğba Yilmaz, Ekrem Ünal, Musa Karakukcu, Türkan Patiroğlu, Christina Kellerer, Ebru Karasu, Karl-Walter Sykora, Atar Lev, Amos Simon, Raz Somech, Joachim Roesler, Manfred Hoenig, Oliver T. Keppler, Klaus Schwarz, Christoph Klein
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-1 (2020)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://doaj.org/article/6a981817becc4e8ca162ede7a2b51a17
Autor:
Joachim Roesler, Florian Segerer, Henner Morbach, Stefan Kleinert, Sebastian Thieme, Angela Rösen-Wolff, Johannes G Liese
Publikováno v:
PLoS ONE, Vol 7, Iss 4, p e34296 (2012)
Two brothers in their fifties presented with a medical history of suspected fungal allergy, allergic bronchopulmonary aspergillosis, alveolitis, and invasive aspergillosis and pulmonary fistula, respectively. Eventually, after a delay of 50 years, ch
Externí odkaz:
https://doaj.org/article/af9fd03b5b2944d5b3b5d3a7ade9c66a
Autor:
J Merlijn van den Berg, Elsbeth van Koppen, Anders Ahlin, Bernd H Belohradsky, Ewa Bernatowska, Lucien Corbeel, Teresa Español, Alain Fischer, Magdalena Kurenko-Deptuch, Richard Mouy, Theoni Petropoulou, Joachim Roesler, Reinhard Seger, Marie-José Stasia, Niels H Valerius, Ron S Weening, Baruch Wolach, Dirk Roos, Taco W Kuijpers
Publikováno v:
PLoS ONE, Vol 4, Iss 4, p e5234 (2009)
CGD is an immunodeficiency caused by deletions or mutations in genes that encode subunits of the leukocyte NADPH oxidase complex. Normally, assembly of the NADPH oxidase complex in phagosomes of certain phagocytic cells leads to a "respiratory burst"
Externí odkaz:
https://doaj.org/article/0e663008f09b445ca39a8b97a56d5380
Autor:
Ariane Chapgier, Stéphanie Boisson-Dupuis, Emmanuelle Jouanguy, Guillaume Vogt, Jacqueline Feinberg, Ada Prochnicka-Chalufour, Armanda Casrouge, Kun Yang, Claire Soudais, Claire Fieschi, Orchidée Filipe Santos, Jacinta Bustamante, Capucine Picard, Ludovic de Beaucoudrey, Jean-François Emile, Peter D Arkwright, Robert D Schreiber, Claudia Rolinck-Werninghaus, Angela Rösen-Wolff, Klaus Magdorf, Joachim Roesler, Jean-Laurent Casanova
Publikováno v:
PLoS Genetics, Vol 2, Iss 8, p e131 (2006)
The transcription factor signal transducer and activator of transcription-1 (STAT1) plays a key role in immunity against mycobacterial and viral infections. Here, we characterize three human STAT1 germline alleles from otherwise healthy patients with
Externí odkaz:
https://doaj.org/article/58ebed901459444195e57dda4379cf28