Search Results - "EHL, Stephan"

Hemophagocytic lymphohistiocytosis in adults: collaborative analysis of 137 cases of a nationwide German registry by Birndt, Sebastian, Schenk, Thomas, Heinevetter, Babett, Brunkhorst, Frank M., Maschmeyer, Georg, Rothmann, Frank, Weber, Thomas, Müller, Markus, Panse, Jens, Penack, Olaf, Schroers, Roland, Braess, Jan, Frickhofen, Norbert, Ehl, Stephan, Janka, Gritta, Lehmberg, Kai, Pletz, Mathias W., Hochhaus, Andreas, Ernst, Thomas, La Rosée, Paul

“…Purpose Hemophagocytic lymphohistiocytosis (HLH) is a severe hyperinflammatory syndrome emerging from a deregulated immune response due to various triggers. In…”
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Interleukin-18 diagnostically distinguishes and pathogenically promotes human and murine macrophage activation syndrome by Weiss, Eric S., Girard-Guyonvarc'h, Charlotte, Holzinger, Dirk, de Jesus, Adriana A., Tariq, Zeshan, Picarsic, Jennifer, Schiffrin, Eduardo J., Foell, Dirk, Grom, Alexei A., Ammann, Sandra, Ehl, Stephan, Hoshino, Tomoaki, Goldbach-Mansky, Raphaela, Gabay, Cem, Canna, Scott W.

“…Hemophagocytic lymphohistiocytosis (HLH) and macrophage activation syndrome (MAS) are life-threatening hyperferritinemic systemic inflammatory disorders…”
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Cell Versus Cytokine - Directed Therapies for Hemophagocytic Lymphohistiocytosis (HLH) in Inborn Errors of Immunity by Wegehaupt, Oliver, Wustrau, Katharina, Lehmberg, Kai, Ehl, Stephan

“…Hemophagocytic lymphohistiocytosis (HLH) is a heterogeneous hyperinflammatory syndrome with different pathways of pathogenesis resulting in similar clinical…”
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Germline STAT3 gain-of-function mutations in primary immunodeficiency: Impact on the cellular and clinical phenotype by Faletti, Laura, Ehl, Stephan, Heeg, Maximilian

“…Signal transducer and activator of transcription 3 (STAT3) is a key transcription factor involved in regulation of immune cell activation and differentiation…”
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Deficiency of Innate and Acquired Immunity Caused by an IKBKB Mutation by Pannicke, Ulrich, Baumann, Bernd, Fuchs, Sebastian, Henneke, Philipp, Rensing-Ehl, Anne, Rizzi, Marta, Janda, Ales, Hese, Katrin, Schlesier, Michael, Holzmann, Karlheinz, Borte, Stephan, Laux, Constanze, Rump, Eva-Maria, Rosenberg, Alan, Zelinski, Teresa, Schrezenmeier, Hubert, Wirth, Thomas, Ehl, Stephan, Schroeder, Marlis L, Schwarz, Klaus

“…A subset of patients with severe combined immunodeficiency have nearly normal numbers of B and T cells that do not work. This study shows that an inability to…”
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The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data by Odnoletkova, Irina, Kindle, Gerhard, Quinti, Isabella, Grimbacher, Bodo, Knerr, Viviane, Gathmann, Benjamin, Ehl, Stephan, Mahlaoui, Nizar, Van Wilder, Philippe, Bogaerts, Kris, de Vries, Esther

“…Common variable immunodeficiency disorders (CVID) are a group of rare innate disorders characterized by specific antibody deficiency and increased rates of…”
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Autoimmune lymphoproliferative immunodeficiencies (ALPID) in childhood: breakdown of immune homeostasis and immune dysregulation by Toskov, Vasil, Ehl, Stephan

“…Many inborn errors of immunity (IEI) manifest with hallmarks of both immunodeficiency and immune dysregulation due to uncontrolled immune responses and…”
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Lambda Interferon Renders Epithelial Cells of the Respiratory and Gastrointestinal Tracts Resistant to Viral Infections by Mordstein, Markus, Neugebauer, Eva, Ditt, Vanessa, Jessen, Birthe, Rieger, Toni, Falcone, Valeria, Sorgeloos, Frederic, Ehl, Stephan, Mayer, Daniel, Kochs, Georg, Schwemmle, Martin, Günther, Stephan, Drosten, Christian, Michiels, Thomas, Staeheli, Peter

“…Article Usage Stats Services JVI Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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The NEW ESID online database network by Scheible, Raphael, Rusch, Stephan, Guzman, David, Mahlaoui, Nizar, Ehl, Stephan, Kindle, Gerhard

“…Primary Immunodeficiencies (PIDs) belong to the group of rare diseases. The European Society for Immunodeficiencies (ESID) operates an international research…”
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Translating the Genomic Revolution — Targeted Genome Editing in Primates by Cathomen, Toni, Ehl, Stephan

“…New methods involving DNA-cutting enzymes guided by precisely tailored DNA-binding elements are increasingly used in the laboratory and are potential tools for…”
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Germline TET2 loss of function causes childhood immunodeficiency and lymphoma by Stremenova Spegarova, Jarmila, Lawless, Dylan, Mohamad, Siti Mardhiana Binti, Engelhardt, Karin R., Doody, Gina, Shrimpton, Jennifer, Rensing-Ehl, Anne, Ehl, Stephan, Rieux-Laucat, Frederic, Cargo, Catherine, Griffin, Helen, Mikulasova, Aneta, Acres, Meghan, Morgan, Neil V., Poulter, James A., Sheridan, Eamonn G., Chetcuti, Philip, O'Riordan, Sean, Anwar, Rashida, Carter, Clive R., Przyborski, Stefan, Windebank, Kevin, Cant, Andrew J., Lako, Majlinda, Bacon, Chris M., Savic, Sinisa, Hambleton, Sophie

“…Molecular dissection of inborn errors of immunity can help to elucidate the nonredundant functions of individual genes. We studied 3 children with an immune…”
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Ledipasvir/Sofosbuvir Eradicates Hepatitis C in an Immunodeficient STAT3-GOF Patient by Thalhammer, Julian, Maccari, Maria Elena, Wegehaupt, Oliver, Ehl, Stephan, Speckmann, Carsten

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Rapid identification and characterization of infected cells in blood during chronic active Epstein-Barr virus infection by Fournier, Benjamin, Boutboul, David, Bruneau, Julie, Miot, Charline, Boulanger, Cécile, Malphettes, Marion, Pellier, Isabelle, Dunogué, Bertrand, Terrier, Benjamin, Suarez, Felipe, Blanche, Stéphane, Castelle, Martin, Winter, Sarah, Delecluse, Henri-Jacques, Molina, Thierry, Picard, Capucine, Ehl, Stephan, Moshous, Despina, Galicier, Lionel, Barlogis, Vincent, Fischer, Alain, Neven, Bénédicte, Latour, Sylvain

“…Epstein-Barr virus (EBV) preferentially infects epithelial cells and B lymphocytes and sometimes T and NK lymphocytes. Persistence of EBV-infected cells…”
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ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia by McCarl, Christie-Ann, BS, Picard, Capucine, MD, PhD, Khalil, Sara, BS, Kawasaki, Takumi, PhD, Röther, Jens, Papolos, Alexander, BS, Kutok, Jeffery, MD, Hivroz, Claire, PhD, LeDeist, Francoise, MD, PhD, Plogmann, Katrin, DMD, Ehl, Stephan, MD, Notheis, Gundula, MD, Albert, Michael H., MD, Belohradsky, Bernd H., MD, Kirschner, Janbernd, MD, Rao, Anjana, PhD, Fischer, Alain, MD, Feske, Stefan, MD

“…Background Defects in the development or activation of T cells result in immunodeficiency associated with severe infections early in life. T-cell activation…”
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Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11 by zur Stadt, Udo, Rohr, Jan, Seifert, Wenke, Koch, Florian, Grieve, Samantha, Pagel, Julia, Strauß, Julia, Kasper, Brigitte, Nürnberg, Gudrun, Becker, Christian, Maul-Pavicic, Andrea, Beutel, Karin, Janka, Gritta, Griffiths, Gillian, Ehl, Stephan, Hennies, Hans Christian

“…Rapid intracellular transport and secretion of cytotoxic granules through the immunological synapse requires a balanced interaction of several proteins…”
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Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations by Miot, Charline, Imai, Kohsuke, Imai, Chihaya, Mancini, Anthony J., Kucuk, Zeynep Yesim, Kawai, Tokomki, Nishikomori, Ryuta, Ito, Etsuro, Pellier, Isabelle, Dupuis Girod, Sophie, Rosain, Jeremie, Sasaki, Shinya, Chandrakasan, Shanmuganathan, Pachlopnik Schmid, Jana, Okano, Tsubasa, Colin, Estelle, Olaya-Vargas, Alberto, Yamazaki-Nakashimada, Marco, Qasim, Waseem, Espinosa Padilla, Sara, Jones, Andrea, Krol, Alfons, Cole, Nyree, Jolles, Stephen, Bleesing, Jack, Vraetz, Thomas, Gennery, Andrew R., Abinun, Mario, Güngör, Tayfun, Costa-Carvalho, Beatriz, Condino-Neto, Antonio, Veys, Paul, Holland, Steven M., Uzel, Gulbu, Moshous, Despina, Neven, Benedicte, Blanche, Stéphane, Ehl, Stephan, Döffinger, Rainer, Patel, Smita Y., Puel, Anne, Bustamante, Jacinta, Gelfand, Erwin W., Casanova, Jean-Laurent, Orange, Jordan S., Picard, Capucine

“…X-linked recessive ectodermal dysplasia with immunodeficiency is a rare primary immunodeficiency caused by hypomorphic mutations of the IKBKG gene encoding the…”
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Adoptive T cell therapy cures mice from active hemophagocytic lymphohistiocytosis (HLH) by Weißert, Kristoffer, Ammann, Sandra, Kögl, Tamara, Dettmer‐Monaco, Viviane, Schell, Christoph, Cathomen, Toni, Ehl, Stephan, Aichele, Peter

“…Primary hemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory syndrome caused by impaired lymphocyte cytotoxicity. First‐line therapeutic regimens…”
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A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes by Bryceson, Yenan T., Pende, Daniela, Maul-Pavicic, Andrea, Gilmour, Kimberly C., Ufheil, Heike, Vraetz, Thomas, Chiang, Samuel C., Marcenaro, Stefania, Meazza, Raffaella, Bondzio, Ilka, Walshe, Denise, Janka, Gritta, Lehmberg, Kai, Beutel, Karin, zur Stadt, Udo, Binder, Nadine, Arico, Maurizio, Moretta, Lorenzo, Henter, Jan-Inge, Ehl, Stephan

“…Familial hemophagocytic lymphohistiocytosis (FHL) is a life-threatening disorder of immune regulation caused by defects in lymphocyte cytotoxicity. Rapid…”
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Recommendations for the Use of Etoposide-Based Therapy and Bone Marrow Transplantation for the Treatment of HLH: Consensus Statements by the HLH Steering Committee of the Histiocyte Society by Ehl, Stephan, Astigarraga, Itziar, von Bahr Greenwood, Tatiana, Hines, Melissa, Horne, AnnaCarin, Ishii, Eiichi, Janka, Gritta, Jordan, Michael B., La Rosée, Paul, Lehmberg, Kai, Machowicz, Rafal, Nichols, Kim E., Sieni, Elena, Wang, Zhao, Henter, Jan-Inge

“…Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome requiring aggressive immunosuppressive therapy. Following 2 large…”
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Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome by Nademi, Zohreh, PhD, Slatter, Mary A., MD, Dvorak, Christopher C., MD, Neven, Benedicte, PhD, Fischer, Alain, MD, Suarez, Felipe, MD, Booth, Claire, MD, Rao, Kanchan, MD, Laberko, Alexandra, MD, Rodina, Julia, MD, Bertrand, Yves, MD, Kołtan, Sylwia, MD, Dębski, Robert, MD, Flood, Terence, MD, Abinun, Mario, MD, Gennery, Andrew R., MD, Hambleton, Sophie, DPhil, Ehl, Stephan, MD, Cant, Andrew J., MD

“…The precise indications and optimal time point for HSCT need to be defined.\n5 MMF/Abatacept France (Lyon)Patient 8 10 M Sinopulmonary…”
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