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Stephan Ehl
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Journal Articles

Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis

Samuel C. C. Chiang, Laura E. Covill, Bianca Tesi, Tessa M. Campbell, Heinrich Schlums, Jelve Nejati-Zendegani, Karina Mördrup, Stephanie Wood, Jakob Theorell, Takuya Sekine, Waleed Al-Herz, Himmet Haluk Akar, Fatma Burcu Belen, Mei Yoke Chan, Omer Devecioglu, Tekin Aksu, Marianne Ifversen, Iwona Malinowska, Magnus Sabel, Ekrem Unal, Sule Unal, Wendy J. Introne, Konrad Krzewski, Kimberly C. Gilmour, Stephan Ehl, Hans-Gustaf Ljunggren, Magnus Nordenskjöld, AnnaCarin Horne, Jan-Inge Henter, Marie Meeths, Yenan T. Bryceson
Journal: Blood
Blood (2024) 144 (8): 873–887.
https://doi.org/10.1182/blood.2024024499
Published: 2024
Includes: Supplemental data
Journal Articles

Survival in primary hemophagocytic lymphohistiocytosis, 2016 to 2021: etoposide is better than its reputation

Clinical Trials & Observations
Svea Böhm, Katharina Wustrau, Jana Pachlopnik Schmid, Seraina Prader, Martina Ahlmann, Joanne Yacobovich, Rita Beier, Carsten Speckmann, Wolfgang Behnisch, Marianne Ifversen, Michael Jordan, Rebecca Marsh, Nora Naumann-Bartsch, Christine Mauz-Körholz, Manfred Hönig, Ansgar Schulz, Iwona Malinowska, Melissa Hines, Kim E. Nichols, Juana Gil-Herrera, Julie-An Talano, Bruce Crooks, Renata Formankova, Norbert Jorch, Shahrzad Bakhtiar, Ingrid Kühnle, Monika Streiter, Michaela Nathrath, Alexandra Russo, Matthias Dürken, Peter Lang, Caroline Lindemans, Jan-Inge Henter, Kai Lehmberg, Stephan Ehl
Journal: Blood
Blood (2024) 143 (10): 872–881.
https://doi.org/10.1182/blood.2023022281
Published: 2024
Includes: Supplemental data
Journal Articles

Circulating B-Cell Precursor Cells As Potential Diagnostic and Therapeutic Biomarker in Patients with WHIM Syndrome

Ulrich Salzer, Christoph B. Geier, Maryssa Ellison, Melis Yilmaz, Caroline von Spee-Mayer, Carsten Speckmann, Stephan Ehl, Olaf Neth, Ana Pilar Garcia Garcia, Angela Deya Martinez, Laia Alsina, Katja Sockel, Catharina Schuetz, David E. Potts, Boglarka Ujhazi, Krisztian Csomos, Jolan E. Walter, Klaus Warnatz
Journal: Blood
Blood (2022) 140 (Supplement 1): 2626–2627.
https://doi.org/10.1182/blood-2022-159190
Published: 2022
Journal Articles

Detection of Signature Double-Negative T Cells Is a Reliable Marker for ALPS Associated with FAS Mutation

Nina Eisenhauer, Maurizio Miano, Nora Naumann-Bartsch, Joerg Leyh, Paola Terranova, Claas Hinze, Michael Aigner, Helmut Wittkowski, Heiko Bruns, Stephan Ehl, Markus Metzler, Peter Arkwright, Andreas Mackensen, Anne Rensing-Ehl, Simon Voelkl
Journal: Blood
Blood (2022) 140 (Supplement 1): 11194.
https://doi.org/10.1182/blood-2022-168550
Published: 2022
Journal Articles

Germline TET2 loss of function causes childhood immunodeficiency and lymphoma

Jarmila Stremenova Spegarova, Dylan Lawless, Siti Mardhiana Binti Mohamad, Karin R. Engelhardt, Gina Doody, Jennifer Shrimpton, Anne Rensing-Ehl, Stephan Ehl, Frederic Rieux-Laucat, Catherine Cargo, Helen Griffin, Aneta Mikulasova, Meghan Acres, Neil V. Morgan, James A. Poulter, Eamonn G. Sheridan, Philip Chetcuti, Sean O'Riordan, Rashida Anwar, Clive R. Carter, Stefan Przyborski, Kevin Windebank, Andrew J. Cant, Majlinda Lako, Chris M. Bacon, Sinisa Savic, Sophie Hambleton
Journal: Blood
Blood (2020) 136 (9): 1055–1066.
https://doi.org/10.1182/blood.2020005844
Published: 2020
Includes: Supplemental data
Journal Articles

Interleukin-18 diagnostically distinguishes and pathogenically promotes human and murine macrophage activation syndrome

Clinical Trials & Observations
Eric S. Weiss, Charlotte Girard-Guyonvarc’h, Dirk Holzinger, Adriana A. de Jesus, Zeshan Tariq, Jennifer Picarsic, Eduardo J. Schiffrin, Dirk Foell, Alexei A. Grom, Sandra Ammann, Stephan Ehl, Tomoaki Hoshino, Raphaela Goldbach-Mansky, Cem Gabay, Scott W. Canna
Journal: Blood
Blood (2018) 131 (13): 1442–1455.
https://doi.org/10.1182/blood-2017-12-820852
Published: 2018
Includes: Supplemental data
Journal Articles

Etoposide for HLH: the limits of efficacy

Clinical Trials & Observations
Stephan Ehl
Journal: Blood
Blood (2017) 130 (25): 2692–2693.
https://doi.org/10.1182/blood-2017-10-808543
Published: 2017
Journal Articles

Diamond-Blackfan Anemia Phenotype Caused By Deficiency of Adenosine Deaminase 2

Enikoe Amina Szvetnik, Christian Klemann, Ina Hainmann, Marie-Francoise O'-Donohue, Tamás Farkas, Marena Niewisch, Regine Grosse, MD, Gabriele Escherich, MD, Sule Unal, Naz Guleray, Muge Gokce, Lydie Da Costa, Thierry LeBlanc, MD, Hélène Dollfus, Eusebia Lara-Villacanas, Thomas Wiesel, Victor Pastor Loyola, MSc, Sushree Sangita Sahoo, M.Sc., Doris Steinemann, PhD, Myriam Lorenz, Klaus Schwarz, Stephan Ehl, Michael Hershfield, Pierre-Emmanuel Gleizes, Charlotte M. Niemeyer, MD, Alyson W. MacInnes, Marcin W. Wlodarski, MD PhD
Journal: Blood
Blood (2017) 130 (Supplement 1): 874.
https://doi.org/10.1182/blood.V130.Suppl_1.874.874
Published: 2017
Journal Articles

Treatment Dilemmas in Asymptomatic Children with Primary Haemophagocytic Lymphohistiocytosis

Giovanna Lucchini, MD, Rebecca A Marsh, Kimberly Gilmour, Austen Worth, Anupama Rao, Claire Booth, Persis J Amrolia, Juliana Silva, MD, Robert Chiesa, Robert Wynn, MD, Kai Lehmberg, Itziar Astigarraga, Tayfun Guengoer, Jan Stary, Despina Moshous, Marianne Ifversen, Stephan Ehl, Daniel Zinn, MD, Paul Veys, MD PhD, Kanchan Rao
Journal: Blood
Blood (2017) 130 (Supplement 1): 3564.
https://doi.org/10.1182/blood.V130.Suppl_1.3564.3564
Published: 2017
Journal Articles

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG /NEMO mutations

Charline Miot, Kohsuke Imai, Chihaya Imai, Anthony J. Mancini, Zeynep Yesim Kucuk, Tokomki Kawai, Ryuta Nishikomori, Etsuro Ito, Isabelle Pellier, Sophie Dupuis Girod, Jeremie Rosain, Shinya Sasaki, Shanmuganathan Chandrakasan, Jana Pachlopnik Schmid, Tsubasa Okano, Estelle Colin, Alberto Olaya-Vargas, Marco Yamazaki-Nakashimada, Waseem Qasim, Sara Espinosa Padilla, Andrea Jones, Alfons Krol, Nyree Cole, Stephen Jolles, Jack Bleesing, Thomas Vraetz, Andrew R. Gennery, Mario Abinun, Tayfun Güngör, Beatriz Costa-Carvalho, Antonio Condino-Neto, Paul Veys, Steven M. Holland, Gulbu Uzel, Despina Moshous, Benedicte Neven, Stéphane Blanche, Stephan Ehl, Rainer Döffinger, Smita Y. Patel, Anne Puel, Jacinta Bustamante, Erwin W. Gelfand, Jean-Laurent Casanova, Jordan S. Orange, Capucine Picard
Journal: Blood
Blood (2017) 130 (12): 1456–1467.
https://doi.org/10.1182/blood-2017-03-771600
Published: 2017
Includes: Supplemental data
Journal Articles

Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome

Simon Völkl, Anne Rensing-Ehl, Andrea Allgäuer, Elisabeth Schreiner, Myriam Ricarda Lorenz, Jan Rohr, Christian Klemann, Ilka Fuchs, Volker Schuster, André O. von Bueren, Nora Naumann-Bartsch, Eleonora Gambineri, Kathrin Siepermann, Robin Kobbe, Michaela Nathrath, Peter D. Arkwright, Maurizio Miano, Klaus-Daniel Stachel, Markus Metzler, Klaus Schwarz, Anita N. Kremer, Carsten Speckmann, Stephan Ehl, Andreas Mackensen
Journal: Blood
Blood (2016) 128 (2): 227–238.
https://doi.org/10.1182/blood-2015-11-685024
Published: 2016
Includes: Supplemental data
Journal Articles

The minimum required level of donor chimerism in hereditary hemophagocytic lymphohistiocytosis

Clinical Trials & Observations
Bernd Hartz, Rebecca Marsh, Kanchan Rao, Jan-Inge Henter, Michael Jordan, Lisa Filipovich, Peter Bader, Rita Beier, Birgit Burkhardt, Roland Meisel, Ansgar Schulz, Beate Winkler, Michael H. Albert, Johann Greil, Gülsün Karasu, Wilhelm Woessmann, Selim Corbacioglu, Bernd Gruhn, Wolfgang Holter, Jörn-Sven Kühl, Peter Lang, Markus G. Seidel, Paul Veys, Alexandra Löfstedt, Sandra Ammann, Stephan Ehl, Gritta Janka, Ingo Müller, Kai Lehmberg
Journal: Blood
Blood (2016) 127 (25): 3281–3290.
https://doi.org/10.1182/blood-2015-12-684498
Published: 2016
Includes: Supplemental data
Journal Articles

Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome

Ales Janda, Klaus Schwarz, Mirjam van der Burg, Werner Vach, Hanna Ijspeert, Myriam Ricarda Lorenz, Magdeldin Elgizouli, Kathrin Pieper, Paul Fisch, Joachim Hagel, Raquel Lorenzetti, Maximilian Seidl, Joachim Roesler, Fabian Hauck, Elisabetta Traggiai, Carsten Speckmann, Anne Rensing-Ehl, Stephan Ehl, Hermann Eibel, Marta Rizzi
Journal: Blood
Blood (2016) 127 (18): 2193–2202.
https://doi.org/10.1182/blood-2015-04-642488
Published: 2016
Includes: Supplemental data
Journal Articles

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome

Sandra Ammann, Ansgar Schulz, Ingeborg Krägeloh-Mann, Nele M. G. Dieckmann, Klaus Niethammer, Sebastian Fuchs, Katja Martina Eckl, Roswitha Plank, Roland Werner, Janine Altmüller, Holger Thiele, Peter Nürnberg, Julia Bank, Anne Strauss, Horst von Bernuth, Udo zur Stadt, Samantha Grieve, Gillian M. Griffiths, Kai Lehmberg, Hans Christian Hennies, Stephan Ehl
Journal: Blood
Blood (2016) 127 (8): 997–1006.
https://doi.org/10.1182/blood-2015-09-671636
Published: 2016
Includes: Supplemental data
Journal Articles

Hyperactive mTOR Pathway Promotes Lymphoproliferation and Abnormal Differentiation in Human Autoimmune Lymphoproliferative Syndrome

Simon Voelkl, PhD, Anne Rensing-Ehl, Andrea Allgaeuer, Elisabeth Schreiner, Myriam Ricarda Lorenz, Jan Rohr, Christian Klemann, Ilka Fuchs, Volker Schuster, Andre von Bueren, Eleonora Gambineri, Kathrin Siepermann, Robin Kobbe, Peter Arkwright, Daniel Stachel, MD, Markus Metzler, MD PhD, Klaus Schwarz, Anita Kremer, MD, Carsten Speckmann, MD, Stephan Ehl, MD, Andreas Mackensen, MD
Journal: Blood
Blood (2015) 126 (23): 1020.
https://doi.org/10.1182/blood.V126.23.1020.1020
Published: 2015
Journal Articles

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome

Anne Rensing-Ehl, Ulrich Pannicke, Stefanie-Yvonne Zimmermann, Myriam Ricarda Lorenz, Benedicte Neven, Ilka Fuchs, Ulrich Salzer, Carsten Speckmann, Anne Strauss, Eberhard Maaβ, Benedicte Collet, Anselm Enders, Remi Favier, Marie Christine Alessi, Frederic Rieux-Laucat, Barbara Zieger, Klaus Schwarz, Stephan Ehl
Journal: Blood
Blood (2015) 126 (16): 1967–1969.
https://doi.org/10.1182/blood-2015-06-654145
Published: 2015
Journal Articles

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency

Sebastian Fuchs, Anne Rensing-Ehl, Ulrich Pannicke, Myriam R. Lorenz, Paul Fisch, Yogesh Jeelall, Jan Rohr, Carsten Speckmann, Thomas Vraetz, Susan Farmand, Annette Schmitt-Graeff, Marcus Krüger, Brigitte Strahm, Philipp Henneke, Anselm Enders, Keisuke Horikawa, Christopher Goodnow, Klaus Schwarz, Stephan Ehl
Journal: Blood
Blood (2015) 126 (14): 1658–1669.
https://doi.org/10.1182/blood-2015-03-631374
Published: 2015
Includes: Supplemental data
Journal Articles

Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

Clinical Trials & Observations
Polina Stepensky, Anne Rensing-Ehl, Ruth Gather, Shoshana Revel-Vilk, Ute Fischer, Schafiq Nabhani, Fabian Beier, Tim H. Brümmendorf, Sebastian Fuchs, Simon Zenke, Elke Firat, Vered Molho Pessach, Arndt Borkhardt, Mirzokhid Rakhmanov, Bärbel Keller, Klaus Warnatz, Hermann Eibel, Gabriele Niedermann, Orly Elpeleg, Stephan Ehl
Journal: Blood
Blood (2015) 125 (5): 753–761.
https://doi.org/10.1182/blood-2014-08-593202
Published: 2015
Includes: Supplemental data
Journal Articles

Abnormally differentiated CD4 + or CD8 + T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency

Anne Rensing-Ehl, Simon Völkl, Carsten Speckmann, Myriam Ricarda Lorenz, Julia Ritter, Ales Janda, Mario Abinun, Hanspeter Pircher, Bertram Bengsch, Robert Thimme, Ilka Fuchs, Sandra Ammann, Andrea Allgäuer, Karim Kentouche, Andrew Cant, Sophie Hambleton, Claudia Bettoni da Cunha, Sebastian Huetker, Ingrid Kühnle, Arnulf Pekrun, Markus G. Seidel, Michael Hummel, Andreas Mackensen, Klaus Schwarz, Stephan Ehl
Journal: Blood
Blood (2014) 124 (6): 851–860.
https://doi.org/10.1182/blood-2014-03-564286
Published: 2014
Includes: Supplemental data
Journal Articles

Platelet secretion defect in a patient with stromal interaction molecule 1 deficiency

Lea Nakamura, Kirstin Sandrock-Lang, Carsten Speckmann, Thomas Vraetz, Martina Bührlen, Stephan Ehl, Johan W. M. Heemskerk, Barbara Zieger
Journal: Blood
Blood (2013) 122 (22): 3696–3698.
https://doi.org/10.1182/blood-2013-08-522037
Published: 2013