Zobrazeno 1 - 10
of 296
pro vyhledávání: '"Stephan, Ehl"'
Autor:
Lea Graafen, Annekathrin Heinze, Nawid Albinger, Emilia Salzmann-Manrique, Franziska Ganß, Sabine Hünecke, Claudia Cappel, Sandra Wölke, Helena Donath, Jordis Trischler, Till-Martin Theilen, Christine Heller, Christoph Königs, Stephan Ehl, Peter Bader, Thomas Klingebiel, Jan-Henning Klusmann, Stefan Zielen, Ralf Schubert, Evelyn Ullrich
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Ataxia telangiectasia (AT) is a rare autosomal-recessive disorder characterized by profound neurodegeneration, combined immunodeficiency, and an increased risk for malignant diseases. Treatment options for AT are limited, and the long-term survival p
Externí odkaz:
https://doaj.org/article/cd5c7ce260f64bc4ac1df5a9b6811eee
Autor:
Vasil Toskov, Stephan Ehl
Publikováno v:
Molecular and Cellular Pediatrics, Vol 10, Iss 1, Pp 1-16 (2023)
Abstract Many inborn errors of immunity (IEI) manifest with hallmarks of both immunodeficiency and immune dysregulation due to uncontrolled immune responses and impaired immune homeostasis. A subgroup of these disorders frequently presents with autoi
Externí odkaz:
https://doaj.org/article/2327839e729a4e5ab4d9fbe35f7255f5
Autor:
Nina Brauer, Yuto Maruta, Miriam Lisci, Katharina Strege, Ilske Oschlies, Hikari Nakamura, Svea Böhm, Kai Lehmberg, Leon Brandhoff, Stephan Ehl, Nima Parvaneh, Wolfram Klapper, Mitsunori Fukuda, Gillian M. Griffiths, Hans Christian Hennies, Tim Niehues, Sandra Ammann
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
IntroductionInborn errors of immunity (IEI) are characterized by a dysfunction of the immune system leading to increased susceptibility to infections, impaired immune regulation and cancer. We present a unique consanguineous family with a history of
Externí odkaz:
https://doaj.org/article/25f7c75470cc4f30b30e5396f519467f
Autor:
Kristoffer Weißert, Sandra Ammann, Tamara Kögl, Viviane Dettmer‐Monaco, Christoph Schell, Toni Cathomen, Stephan Ehl, Peter Aichele
Publikováno v:
EMBO Molecular Medicine, Vol 14, Iss 12, Pp n/a-n/a (2022)
Abstract Primary hemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory syndrome caused by impaired lymphocyte cytotoxicity. First‐line therapeutic regimens directed against activated immune cells or secreted cytokines show limited efficac
Externí odkaz:
https://doaj.org/article/2ffb87361991498c8e773868790b11a4
Publikováno v:
Biomedical Journal, Vol 44, Iss 4, Pp 412-421 (2021)
Signal transducer and activator of transcription 3 (STAT3) is a key transcription factor involved in regulation of immune cell activation and differentiation. Recent discoveries highlight the role of germline activating STAT3 mutations in inborn erro
Externí odkaz:
https://doaj.org/article/e80fcbefd2a4425b89ea191780bb7649
Autor:
Jérôme Hadjadj, Carla Noemi Castro, Maud Tusseau, Marie-Claude Stolzenberg, Fabienne Mazerolles, Nathalie Aladjidi, Martin Armstrong, Houman Ashrafian, Ioana Cutcutache, Georg Ebetsberger-Dachs, Katherine S. Elliott, Isabelle Durieu, Nicole Fabien, Mathieu Fusaro, Maximilian Heeg, Yohan Schmitt, Marc Bras, Julian C. Knight, Jean-Christophe Lega, Gaetan Lesca, Anne-Laure Mathieu, Marion Moreews, Baptiste Moreira, Audrey Nosbaum, Matthew Page, Cécile Picard, T. Ronan Leahy, Isabelle Rouvet, Ethel Ryan, Damien Sanlaville, Klaus Schwarz, Andrew Skelton, Jean-Francois Viallard, Sebastien Viel, Marine Villard, Isabelle Callebaut, Capucine Picard, Thierry Walzer, Stephan Ehl, Alain Fischer, Bénédicte Neven, Alexandre Belot, Frédéric Rieux-Laucat
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
SOCS1 is a potent suppressor of JAK-STAT signalling responses to IFNγ and γ-chain cytokines and thereby limits inflammation. Here the authors identify and characterize heterozygous SOCS1 mutations in 10 patients from 5 unrelated families with autoi
Externí odkaz:
https://doaj.org/article/e099b2415a024179917630ee4d4f2ec2
Autor:
Doris Boeckelmann, Mira Wolter, Katharina Neubauer, Felix Sobotta, Antonia Lenz, Hannah Glonnegger, Barbara Käsmann-Kellner, Jasmin Mann, Stephan Ehl, Barbara Zieger
Publikováno v:
Frontiers in Pharmacology, Vol 12 (2022)
Hermansky-Pudlak syndrome (HPS), a rare heterogeneous autosomal recessive disorder, is characterized by oculocutaneous albinism (OCA) and a bleeding diathesis due to a defect regarding melanosomes and platelet delta (δ)-granule secretion. Interestin
Externí odkaz:
https://doaj.org/article/66b95f81a5664238bf04adb0e46c3b3f
Autor:
Jessica Rojas-Restrepo, Andrés Caballero-Oteyza, Katrin Huebscher, Hanna Haberstroh, Manfred Fliegauf, Baerbel Keller, Robin Kobbe, Klaus Warnatz, Stephan Ehl, Michele Proietti, Bodo Grimbacher
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Predominantly antibody deficiencies (PAD) are a heterogeneous group of disorders characterized by dysfunctional antibody production, low immunoglobulin levels in serum and impaired vaccine responses. The clinical picture is variable, ranging from mil
Externí odkaz:
https://doaj.org/article/5deb30c22ea64b21858b1f2a18cef355
Autor:
Thomas Mika, Deepak Vangala, Matthias Eckhardt, Paul La Rosée, Christoph Lange, Kai Lehmberg, Charlotte Wohlschläger, Saskia Biskup, Ilka Fuchs, Jasmin Mann, Stephan Ehl, Klaus Warnatz, Roland Schroers
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Hemophagocytic lymphohistiocytosis (HLH) is a disorder of uncontrolled immune activation with distinct clinical features including fever, cytopenia, splenomegaly, and sepsis-like symptoms. In a young adolescent patient a novel germline GATA2 variant
Externí odkaz:
https://doaj.org/article/c458839039cf429d97ae8978a6f9df55
Autor:
Irina Odnoletkova, Gerhard Kindle, Isabella Quinti, Bodo Grimbacher, Viviane Knerr, Benjamin Gathmann, Stephan Ehl, Nizar Mahlaoui, Philippe Van Wilder, Kris Bogaerts, Esther de Vries, in collaboration with the Plasma Protein Therapeutics Association (PPTA) Taskforce
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-17 (2018)
Abstract Background Common variable immunodeficiency disorders (CVID) are a group of rare innate disorders characterized by specific antibody deficiency and increased rates of infections, comorbidities and mortality. The burden of CVID in Europe has
Externí odkaz:
https://doaj.org/article/04c8e87da665449f9113be8c77916d7d