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Jana Pachlopnik Schmid
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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

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

Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11

Fernando E. Sepulveda, Franck Debeurme, Gaël Ménasché, Mathieu Kurowska, Marjorie Côte, Jana Pachlopnik Schmid, Alain Fischer, Geneviève de Saint Basile
Journal: Blood
Blood (2013) 121 (4): 595–603.
https://doi.org/10.1182/blood-2012-07-440339
Published: 2013
Includes: Supplemental data
Journal Articles

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

Nadine T. Nehme, Jana Pachlopnik Schmid, Franck Debeurme, Isabelle André-Schmutz, Annick Lim, Patrick Nitschke, Frédéric Rieux-Laucat, Patrick Lutz, Capucine Picard, Nizar Mahlaoui, Alain Fischer, Geneviève de Saint Basile
Journal: Blood
Blood (2012) 119 (15): 3458–3468.
https://doi.org/10.1182/blood-2011-09-378364
Published: 2012
Includes: Supplemental data
Journal Articles

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)

Clinical Trials & Observations
Jana Pachlopnik Schmid, Danielle Canioni, Despina Moshous, Fabien Touzot, Nizar Mahlaoui, Fabian Hauck, Hirokazu Kanegane, Eduardo Lopez-Granados, Ester Mejstrikova, Isabelle Pellier, Lionel Galicier, Claire Galambrun, Vincent Barlogis, Pierre Bordigoni, Alain Fourmaintraux, Mohamed Hamidou, Alain Dabadie, Françoise Le Deist, Filomeen Haerynck, Marie Ouachée-Chardin, Pierre Rohrlich, Jean-Louis Stephan, Christelle Lenoir, Stéphanie Rigaud, Nathalie Lambert, Michèle Milili, Claudin Schiff, Helen Chapel, Capucine Picard, Geneviève de Saint Basile, Stéphane Blanche, Alain Fischer, Sylvain Latour
Journal: Blood
Blood (2011) 117 (5): 1522–1529.
https://doi.org/10.1182/blood-2010-07-298372
Published: 2011
Includes: Supplemental data
Journal Articles

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

Clinical Trials & Observations
Claire Booth, Kimberly C. Gilmour, Paul Veys, Andrew R. Gennery, Mary A. Slatter, Helen Chapel, Paul T. Heath, Colin G. Steward, Owen Smith, Anna O'Meara, Hilary Kerrigan, Nizar Mahlaoui, Marina Cavazzana-Calvo, Alain Fischer, Despina Moshous, Stephane Blanche, Jana Pachlopnik Schmid, Sylvain Latour, Genevieve de Saint-Basile, Michael Albert, Gundula Notheis, Nikolaus Rieber, Brigitte Strahm, Henrike Ritterbusch, Arjan Lankester, Nico G. Hartwig, Isabelle Meyts, Alessandro Plebani, Annarosa Soresina, Andrea Finocchi, Claudio Pignata, Emilia Cirillo, Sonia Bonanomi, Christina Peters, Krzysztof Kalwak, Srdjan Pasic, Petr Sedlacek, Janez Jazbec, Hirokazu Kanegane, Kim E. Nichols, I. Celine Hanson, Neena Kapoor, Elie Haddad, Morton Cowan, Sharon Choo, Joanne Smart, Peter D. Arkwright, Hubert B. Gaspar
Journal: Blood
Blood (2011) 117 (1): 53–62.
https://doi.org/10.1182/blood-2010-06-284935
Published: 2011
Includes: Supplemental data
Journal Articles

Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients

Jana Pachlopnik Schmid, Despina Moshous, Nathalie Boddaert, Bénédicte Neven, Liliane Dal Cortivo, Marc Tardieu, Marina Cavazzana-Calvo, Stéphane Blanche, Geneviève de Saint Basile, Alain Fischer
Journal: Blood
Blood (2009) 114 (1): 211–218.
https://doi.org/10.1182/blood-2009-02-207845
Published: 2009
Includes: Supplemental data