Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Julia Körholz"'
Autor:
Timmy Strauss, Julia Körholz, Hye Sun Kuehn, Agustin A. Gil Silva, Franziska Taube, Karolin Trautmann-Grill, Anna Stittrich, Leonora Pietzsch, Ralf Wiedemuth, Volker Wahn, Horst von Bernuth, Sergio D. Rosenzweig, Maria Fasshauer, Renate Krüger, Catharina Schuetz
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Heterozygous germline variants in human IKZF1 encoding for IKAROS define an inborn error of immunity with immunodeficiency, immune dysregulation and risk of malignancy with a broad phenotypic spectrum. Growing evidence of underlying pathophysiologica
Externí odkaz:
https://doaj.org/article/3e8835010a834401813ac42077f21c6e
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
The discovery of Suppressor of Cytokine Signaling 1 (SOCS1) in 1997 marked a significant milestone in understanding the regulation of Janus kinase/Signal transducer and activator of transcription (JAK/STAT) signaling pathways. Subsequent research dec
Externí odkaz:
https://doaj.org/article/d2926768435a498e933e6a0d4bf7e49d
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
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract 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
Externí odkaz:
https://doaj.org/article/ef5f9b76b7484569ab9e82d3e5536374
Autor:
Sven Vanselow, Leif Hanitsch, Fabian Hauck, Julia Körholz, Maria-Elena Maccari, Andrea Meinhardt, Georgios Sogkas, Catharina Schuetz, Bodo Grimbacher
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
IntroductionThe diagnosis and treatment of inborn errors of immunity (IEI) is a major challenge as the individual conditions are rare and often characterized by a variety of symptoms, which are often non disease-specific. Ideally, patients are treate
Externí odkaz:
https://doaj.org/article/f7e2a8b318584d25b79f569e684fb0cd
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:
Julia Körholz, Anastasia Gabrielyan, John M. Sowerby, Felix Boschann, Lan-Sun Chen, Diana Paul, David Brandt, Janina Kleymann, Martin Kolditz, Nicole Toepfner, Ralf Knöfler, Eva-Maria Jacobsen, Christine Wolf, Karsten Conrad, Nadja Röber, Min Ae Lee-Kirsch, Kenneth G. C. Smith, Stefan Mundlos, Reinhard Berner, Alexander H. Dalpke, Catharina Schuetz, William Rae
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
BackgroundInborn errors of immunity (IEI) present with a large phenotypic spectrum of disease, which can pose diagnostic and therapeutic challenges. Suppressor of cytokine signaling 1 (SOCS1) is a key negative regulator of cytokine signaling, and has
Externí odkaz:
https://doaj.org/article/157591a72b194f6cb40a244fa421e25e
Autor:
Julia Körholz, Nadja Lucas, Franziska Boiti, Karina Althaus, Oliver Tiebel, Mingyan Fang, Reinhard Berner, Min Ae Lee-Kirsch, Ralf Knöfler
Publikováno v:
TH Open, Vol 04, Iss 04, Pp e413-e416 (2020)
Next-generation sequencing is increasingly applied during the diagnostic work-up of patients with bleeding diathesis and has facilitated the diagnosis of rare bleeding disorders such as inherited platelet function disorders. Mutations in RAS guanyl r
Externí odkaz:
https://doaj.org/article/924c99b7622343c4b6376e00269effbb
Autor:
V. Koneti Rao, Sharon Webster, Anna Sediva, Alessandro Plebani, Catharina Schuetz, Anna Shcherbina, Virgil A.S.H. Dalm, Antonino Trizzino, Yulia Zharankova, Elaine Kulm, Alanvin Orpia, Lavenda Chirombo Kluczynski, Julia Körholz, Vassilios Lougaris, Yulia Rodina, Klaus Kucher, Kath Radford, Jason Bradt, Gulbu Uzel
Publikováno v:
Blood. 140:1643-1645
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:
V. Koneti Rao, Sharon Webster, Anna Šedivá, Alessandro Plebani, Catharina Schuetz, Anna Shcherbina, Niall Conlon, Tanya Coulter, Virgil A. Dalm, Antonino Trizzino, Yulia Zharankova, Elaine Kulm, Julia Körholz, Vassilios Lougaris, Yulia Rodina, Kath Radford, Jason Bradt, Klaus Kucher, Anurag Relan, Steven M. Holland, Michael J. Lenardo, Gulbu Uzel
Publikováno v:
Blood, 141(9), 971-983. American Society of Hematology
Activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS) is an inborn error of immunity with clinical manifestations including infections, lymphoproliferation, autoimmunity, enteropathy, bronchiectasis, increased risk of lymphoma, and early
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3627640657e443c1bd5142aa407fcd7
https://pure.eur.nl/en/publications/98f12a91-76ee-40bd-95aa-e8b094fcfae4
https://pure.eur.nl/en/publications/98f12a91-76ee-40bd-95aa-e8b094fcfae4