Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Myriam Ricarda Lorenz"'
Autor:
Carolin Escherich, Benedikt Bötticher, Stefani Harmsen, Marc Hömberg, Jörg Schaper, Myriam Ricarda Lorenz, Klaus Schwarz, Arndt Borkhardt, Prasad Thomas Oommen
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Deficiency of Adenosine Deaminase Type 2 (DADA2) is a rare autosomal recessive inherited disorder with a variable phenotype including generalized or cerebral vasculitis and bone marrow failure. It is caused by variations in the adenosine deaminase 2
Externí odkaz:
https://doaj.org/article/d6152e7c12ea4cb889ae4bf8f7ec50c9
Autor:
Julia Zinngrebe, Barbara Moepps, Thomas Monecke, Peter Gierschik, Ferdinand Schlichtig, Thomas F E Barth, Gudrun Strauß, Elena Boldrin, Carsten Posovszky, Ansgar Schulz, Ortraud Beringer, Eva Rieser, Eva‐Maria Jacobsen, Myriam Ricarda Lorenz, Klaus Schwarz, Ulrich Pannicke, Henning Walczak, Dierk Niessing, Catharina Schuetz, Pamela Fischer‐Posovszky, Klaus‐Michael Debatin
Publikováno v:
EMBO Molecular Medicine, Vol 14, Iss 3, Pp n/a-n/a (2022)
Abstract Autoinflammatory diseases are a heterogenous group of disorders defined by fever and systemic inflammation suggesting involvement of genes regulating innate immune responses. Patients with homozygous loss‐of‐function variants in the OTU
Externí odkaz:
https://doaj.org/article/83cf35280c7b412da8856b8b0ae57fcf
Autor:
Jennifer W. Leiding, Tiphanie P. Vogel, Valentine G.J. Santarlas, Rahul Mhaskar, Madison R. Smith, Alexandre Carisey, Alexander Vargas-Hernández, Manuel Silva-Carmona, Maximilian Heeg, Anne Rensing-Ehl, Bénédicte Neven, Jérôme Hadjadj, Sophie Hambleton, Timothy Ronan Leahy, Kornvalee Meesilpavikai, Charlotte Cunningham-Rundles, Cullen M. Dutmer, Svetlana O. Sharapova, Mervi Taskinen, Ignatius Chua, Rosie Hague, Christian Klemann, Larysa Kostyuchenko, Tomohiro Morio, Akaluck Thatayatikom, Ahmet Ozen, Anna Scherbina, Cindy S. Bauer, Sarah E. Flanagan, Eleonora Gambineri, Lisa Giovannini-Chami, Jennifer Heimall, Kathleen E. Sullivan, Eric Allenspach, Neil Romberg, Sean G. Deane, Benjamin T. Prince, Melissa J. Rose, John Bohnsack, Talal Mousallem, Rohith Jesudas, Maria Marluce Dos Santos Vilela, Michael O’Sullivan, Jana Pachlopnik Schmid, Štěpánka Průhová, Adam Klocperk, Matthew Rees, Helen Su, Sami Bahna, Safa Baris, Lisa M. Bartnikas, Amy Chang Berger, Tracy A. Briggs, Shannon Brothers, Vanessa Bundy, Alice Y. Chan, Shanmuganathan Chandrakasan, Mette Christiansen, Theresa Cole, Matthew C. Cook, Mukesh M. Desai, Ute Fischer, David A. Fulcher, Silvanna Gallo, Amelie Gauthier, Andrew R. Gennery, José Gonçalo Marques, Frédéric Gottrand, Bodo Grimbacher, Eyal Grunebaum, Emma Haapaniemi, Sari Hämäläinen, Kaarina Heiskanen, Tarja Heiskanen-Kosma, Hal M. Hoffman, Luis Ignacio Gonzalez-Granado, Anthony L. Guerrerio, Leena Kainulainen, Ashish Kumar, Monica G. Lawrence, Carina Levin, Timi Martelius, Olaf Neth, Peter Olbrich, Alejandro Palma, Niraj C. Patel, Tamara Pozos, Kahn Preece, Saúl Oswaldo Lugo Reyes, Mark A. Russell, Yael Schejter, Christine Seroogy, Jan Sinclair, Effie Skevofilax, Daniel Suan, Daniel Suez, Paul Szabolcs, Helena Velasco, Klaus Warnatz, Kelly Walkovich, Austen Worth, Mikko R.J. Seppänen, Troy R. Torgerson, Georgios Sogkas, Stephan Ehl, Stuart G. Tangye, Megan A. Cooper, Joshua D. Milner, Lisa R. Forbes Satter, Svetlana Aleshkevich, Luis M. Allende, T. Prescott Atkinson, Faranaz Atschekzei, Sezin Aydemir, Utku Aygunes, Vincent Barlogis, Ulrich Baumann, John Belko, Liliana Bezrodnik, Ariane Biebl, Lori Broderick, Nancy J. Bunin, Maria Soledad Caldirola, Martin Castelle, Fatih Celmeli, Louis-Marie Charbonnier, Talal A. Chatila, Deepak Chellapandian, Haluk Cokugras, Niall Conlon, Fionnuala Cox, Etienne Crickx, Buket Dalgic, Virgil ASH Dalm, Silvia Danielian, Nerea Dominguez-Pinilla, Tal Dujovny, Mikael Ebbo, Ahmet Eken, Brittany Esty, Alexandre Fabre, Alain Fischer, Mark Hannibal, Laura Huppert, Marc D. Ikeda, Stephen Jolles, Kent W. Jolly, Neil Jones, Maria Kanariou, Elif Karakoc-Aydiner, Theoni Karamantziani, Charikleia Kelaidi, Mary Keogan, Ayşenur Pac Kisaarslan, Ayca Kiykim, Kosmas Kotsonis, Natalia Kuzmenko, Sylvie Leroy, Dimitra Lianou, Hilary Longhurst, Myriam Ricarda Lorenz, Patrick Maffucci, Ania Manson, Sarah Marchal, Marion Malphettes, Lia Furlaneto Marega, Andrea A. Mauracher, Holly Miller, Joy Mombourquette, Noel G. Morgan, Anna Mukhina, Aladjidi Nathalie, Brigitte Nelken, David Nolan, Anna-Carin Norlin, Matias Oleastro, Alper Ozcan, Marlene Pasquet, José Roberto Pegler, Capucine Picard, Sophia Polychronopoulou, Pierre Quartier, Juan Francisco Quesada, Jan Ramakers, Katrina L. Randall, V. Koneti Rao, Allison Remiker, Geraldine Resin, Peter Richmond, Frederic Rieux-Laucat, Yulia Rodina, Pierre Rohrlich, Johnathan Sachs, Inga Sakovich, Christopher Santarlas, Sinan Sari, Gregory Sawicki, Uwe Schauer, Selma C. Scheffler Mendoza, Oksana Schvetz, Reinhold Ernst Schmidt, Klaus Schwarz, Anna Sediva, Kyle Sinclair, Mary Slatter, John Sleasman, Katerina Stergiou, Narissara Suratannon, Kay Tanita, Grace Thompson, Stephen Travis, Timothy Trojan, Maria Tsinti, Ekrem Unal, Luciano Urdinez, Felisa Vazquez-Gomez, Mariana Villa, Michael Weinrich, Mitchell J. Weiss, Benjamin Wright, Ebru Yilmaz, Radana Zachova, Yu Zhang
Publikováno v:
Journal of Allergy and Clinical Immunology, 151(4), 1081-1095. Mosby Inc.
Background: In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity. Objective: This pi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffe7ac03982685dd66aed0013774cc7d
https://pure.eur.nl/en/publications/d18b5abe-edf5-41dc-a269-bb2f2b226ae6
https://pure.eur.nl/en/publications/d18b5abe-edf5-41dc-a269-bb2f2b226ae6
Autor:
Stephan Ehl, Klaus Warnatz, Nora Naumann-Bartsch, Anika Erxleben, Geoffroy Andrieux, Myriam Ricarda Lorenz, Robin Kobbe, Maximilian Heeg, Melanie Boerries, Gerd Horneff, Gregor Dückers, Stefan Schönberger, Klaus Schwarz, Julian Staniek, Jan Rohr, Andreas Mackensen, Hermann Eibel, Stephen Owens, Miriam Groß, Patrick Kury, Julian Thalhammer, Marita Führer, Andreas P. Frei, Pascal Schneider, Charlotte M. Niemeyer, Catharina Schütz, Carla N. Castro, Markus G. Seidel, Maria Elena Maccari, Ilka Fuchs, Simon Völkl, Friedrich G. Kapp, Marta Rizzi, Ursula Warthorst, R Kolb, Christian Klemann, Maurizio Miano, Tomas Kalina, Sebastian Fuchs, Rolf Backofen, Petr Smisek, Dirk Holzinger, Christoph König, Carsten Speckmann, Sabine Jägle, Arif B. Ekici, Bodo Grimbacher, Bertram Bengsch, Anne Rensing-Ehl
Publikováno v:
The Journal of Experimental Medicine
The Journal of experimental medicine, vol. 218, no. 2, pp. e20192191
The Journal of experimental medicine, vol. 218, no. 2, pp. e20192191
Maccari et al. identify a physiological population of highly proliferative CD38+CD45RA+, IL-10–producing TCRαβ+ T cells. They can be CD4+, CD8+, or double-negative and are controlled by FAS and CTLA4, while their survival is enhanced by mTOR and
Autor:
Thomas Boehm, Myriam Ricarda Lorenz, Carsten Speckmann, Marita Führer, Paul Fisch, Shahrzad Bakhtiar, Klaus Schwarz, Patrick Kury, Sebastian Fuchs, Stephan Ehl, Andreas P. Frei, Orlando Bruno Giorgetti
Publikováno v:
EBioMedicine
EBioMedicine, Vol 59, Iss, Pp 102961-(2020)
EBioMedicine, Vol 59, Iss, Pp 102961-(2020)
Backgound The potential of a single progenitor cell to establish and maintain long-term protective T-cell immunity in humans is unknown. For genetic disorders disabling T-cell immunity, somatic reversion was shown to support limited T-cell developmen
Autor:
Myriam Ricarda Lorenz, Christian P. Kratz, Miriam Groß, Charlotte M. Niemeyer, Oliver Wegehaupt, Stephan Ehl, Annette Schmitt-Graeff, Klaus Schwarz, Markus Uhl, Claudia Wehr, Reinhard Marks
Publikováno v:
Pediatric Blood & Cancer. 67
This report offers novel clinical and diagnostic aspects of the association between germline mutations in HAVCR2 and subcutaneous panniculitis-like T-cell lymphoma (SPTCL). The patient presented with panniculitis-like T-cell lymphoma involving mesent
Autor:
Barbara Zieger, Sandra Ammann, Stephan Ehl, Rudolf Korinthenberg, Janbernd Kirschner, Horst Urbach, Klaus Schwarz, Olaf Moske-Eick, Myriam Ricarda Lorenz, Christian Klemann, Soroush Doostkam
Publikováno v:
European Journal of Paediatric Neurology. 22:870-877
CD59 is involved in lymphocyte signal transduction and regulates complement-mediated cell lysis by inhibiting the membrane attack complex. In the cases reported so far, congenital isolated CD59 deficiency was associated with recurrent episodes of hem
Autor:
Christian Klemann, Maximilian Heeg, Udo zur Stadt, Thomas Vraetz, Miriam Heizmann, Claudia Roll, Sebastian F. N. Bode, Klaus Schwarz, Stefan Feske, Hans Fuchs, Stephan Ehl, Sandra Ammann, Jan Rohr, Carsten Speckmann, Sebastian Fuchs, Myriam Ricarda Lorenz, Kai Lehmberg
Publikováno v:
Journal of Allergy and Clinical Immunology. 140:1721-1724
Autor:
Hannah Tamary, Akiko Shimamura, Joseph Kaplelushnik, Klaus-Michael Debatin, Klaus Schwarz, Marilyn Sanchez-Bonilla, Orly Dgany, Ming K. Lee, Tom Walsh, Jerry Stein, Holger Cario, Suleyman Gulsuner, Ansgar Schulz, Manfred Hoenig, Aaron Seo, Anoop K. Sendamarai, Clemens Stockklausner, Myriam Ricarda Lorenz, Andreas E. Kulozik, Mehtap Sirin, Miri Ben-Harosh, Mary Claire King, Ulrich Pannicke
Publikováno v:
Blood. 130:875-880
We report 5 individuals in 3 unrelated families with severe thrombocytopenia progressing to trilineage bone marrow failure (BMF). Four of the children received hematopoietic stem cell transplants and all showed poor graft function with persistent sev
Autor:
Uwe Kölsch, V. Wahn, Klaus Warnatz, Ulrich Baumann, Stephan Borte, Ina Harder, Myriam Ricarda Lorenz, Baerbel Keller, Renate Krüger, Klaus Schwarz, Stephan Ehl, Horst von Bernuth
Publikováno v:
Scandinavian Journal of Immunology. 91
Hypomorphic mutations in the gene encoding Bruton tyrosine kinase (BTK) may result in milder phenotypes and delayed diagnosis of B-cell related immunodeficiencies due to residual BTK function. Newborn screening for kappa-deleting-recombination-excisi