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Journal Articles

Immunoactinopathies revisited: understanding clinical manifestations and biological pathways

Available to Purchase
Fleur Hiensch, Loïc Dupré, Elisabeth Salzer
Journal: Blood
Blood (2025) 145 (23): 2709–2732.
https://doi.org/10.1182/blood.2024026763
Published: 2025
Includes: Supplemental data
Journal Articles

Human DOCK11 Deficiency Causes Defective Erythropoiesis and Systemic Inflammation

Free
Jana Block, Christina Rashkova, Irinka Castanon, Jessica Platon, Samaneh Zoghi, Mitsuhiro Fujiwara, Beatriz Chaves, Rouven Schoppmeyer, Caspar Van Der Made, Rocio Cabrera-Perez, Frederike Leonie Harms, Rico Chandra Ardy, Samin Alavi, Laia Alsina, Rainiero Avila Polo, Paula Sanchez Moreno, Raul Jimenez Heredia, Thomas Hannich, Johannes Huppa, Martin Distel, Winfried Pickl, Jeffrey Yoder, David Traver, Karin Engelhardt, Tobias Linden, Leo Kager, Sophie Hambleton, Alexander Hoischen, Sabine Illsinger, Zahra Chavoshzadeh, Kerstin Kutsche, Lydie Da Costa, Jaap Van Buul, Joan Calzada-Hernandez, Jordi Anton, Olaf Neth, Julien Viaud, Akihiko Nishikimi, Loic Dupre, Kaan Boztug
Journal: Blood
Blood (2023) 142 (Supplement 1): 4107.
https://doi.org/10.1182/blood-2023-172795
Published: 2023
Journal Articles

Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8 + T-cell function and perturbed glycolysis

Free
Sevgi Kostel Bal, Sarah Giuliani, Jana Block, Peter Repiscak, Christoph Hafemeister, Tala Shahin, Nurhan Kasap, Bernhard Ransmayr, Yirun Miao, Cheryl van de Wetering, Alexandra Frohne, Raul Jimenez Heredia, Michael Schuster, Samaneh Zoghi, Vanessa Hertlein, Marini Thian, Aleksandr Bykov, Royala Babayeva, Sevgi Bilgic Eltan, Elif Karakoc-Aydiner, Lisa E. Shaw, Iftekhar Chowdhury, Markku Varjosalo, Rafael J. Argüello, Matthias Farlik, Ahmet Ozen, Edgar Serfling, Loïc Dupré, Christoph Bock, Florian Halbritter, J. Thomas Hannich, Irinka Castanon, Michael J. Kraakman, Safa Baris, Kaan Boztug
Journal: Blood
Blood (2023) 142 (9): 827–845.
https://doi.org/10.1182/blood.2022018303
Published: 2023
Includes: Supplemental data
Journal Articles

Long-Term Follow-up Study after Lentiviral Hematopoietic Stem/Progenitor Cell Gene Therapy for Wiskott - Aldrich Syndrome

Free
Alessandra Magnani, Michaela Semeraro, Frédéric ADAM, Claire Booth, Loic Dupre, Emma C Morris, Aurélie Gabrion, Cecile Roudaut, Delphine Borgel, Antoine Toubert, Emmanuel Clave, Chrystelle Abdo, Guy Gorochov, Rachel Petermann, Mélanie Guiot, Makoto Miyara, Despina Moshous, Elisa Magrin, Adeline Denis, Felipe Suarez, Chantal Lagresle-Peyrou, Aoife Doto, John K. Everett, Amélie Trinquand, Marianne Guisset, Jin Hua Xu-Bayford, Salima Hacein-Bey-Abina, Alexandre Kauskot, Reem Elfeky, Christine Rivat, Sarah Abbas, Bobby H Gaspar, Elizabeth A. Macintyre, Capucine Picard, Frederic D. Bushman, Anne Galy, Alain Fischer, Emmanuelle Six, Adrian J. Thrasher, Marina Cavazzana
Journal: Blood
Blood (2021) 138 (Supplement 1): 2934.
https://doi.org/10.1182/blood-2021-147697
Published: 2021
Journal Articles

RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis

Free
Artem Kalinichenko, Giovanna Perinetti Casoni, Loïc Dupré, Luca Trotta, Jakob Huemer, Donatella Galgano, Yolla German, Ben Haladik, Julia Pazmandi, Marini Thian, Özlem Yüce Petronczki, Samuel C. Chiang, Mervi Taskinen, Anne Hekkala, Saila Kauppila, Outi Lindgren, Terhi Tapiainen, Michael J. Kraakman, Kim Vettenranta, Alexis J. Lomakin, Janna Saarela, Mikko R. J. Seppänen, Yenan T. Bryceson, Kaan Boztug
Journal: Blood
Blood (2021) 137 (15): 2033–2045.
https://doi.org/10.1182/blood.2020008738
Published: 2021
Includes: Supplemental data
Journal Articles

T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency

Free
Immacolata Brigida, Matteo Zoccolillo, Maria Pia Cicalese, Laurène Pfajfer, Federica Barzaghi, Serena Scala, Carmen Oleaga-Quintas, Jesus A. Álvarez-Álvarez, Lucia Sereni, Stefania Giannelli, Claudia Sartirana, Francesca Dionisio, Luca Pavesi, Marta Benavides-Nieto, Luca Basso-Ricci, Paola Capasso, Benedetta Mazzi, Jeremie Rosain, Nufar Marcus, Yu Nee Lee, Raz Somech, Massimo Degano, Giuseppe Raiola, Roberta Caorsi, Paolo Picco, Marcela Moncada Velez, Joelle Khourieh, Andrés Augusto Arias, Aziz Bousfiha, Thomas Issekutz, Andrew Issekutz, Bertrand Boisson, Kerry Dobbs, Anna Villa, Angelo Lombardo, Benedicte Neven, Despina Moshous, Jean-Laurent Casanova, José Luis Franco, Luigi D. Notarangelo, Cristina Scielzo, Stefano Volpi, Loïc Dupré, Jacinta Bustamante, Marco Gattorno, Alessandro Aiuti
Journal: Blood
Blood (2018) 132 (22): 2362–2374.
https://doi.org/10.1182/blood-2018-07-863431
Published: 2018
Includes: Supplemental data
Journal Articles

Computational Integration to Model Tumor Dynamics in CLL Patients Treated with the Btk Inhibitor Ibrutinib (CompuTreatCLL): First Results of an Integrative Systems Biology Approach

Free
Loic Ysebaert, MD PhD, Sarah Cadot, PhD, Salim Kanoun, MD, Soleakhena Ken, Christian Recher, MD PhD, François Malgouyres, Sebastien Gadat, Loic Dupre, PhD, Anne Quillet Mary, PhD
Journal: Blood
Blood (2017) 130 (Supplement 1): 2990.
https://doi.org/10.1182/blood.V130.Suppl_1.2990.2990
Published: 2017
Journal Articles

WIP deficiency severely affects human lymphocyte architecture during migration and synapse assembly

Free
Laurène Pfajfer, Markus G. Seidel, Raïssa Houmadi, Javier Rey-Barroso, Tatjana Hirschmugl, Elisabeth Salzer, Inés María Antón, Christian Urban, Wolfgang Schwinger, Kaan Boztug, Loïc Dupré
Journal: Blood
Blood (2017) 130 (17): 1949–1953.
https://doi.org/10.1182/blood-2017-04-777383
Published: 2017
Includes: Supplemental data
Journal Articles

DC-SIGN–expressing macrophages trigger activation of mannosylated IgM B-cell receptor in follicular lymphoma

Free
Rada Amin, Frédéric Mourcin, Fabrice Uhel, Céline Pangault, Philippe Ruminy, Loic Dupré, Marion Guirriec, Tony Marchand, Thierry Fest, Thierry Lamy, Karin Tarte
Journal: Blood
Blood (2015) 126 (16): 1911–1920.
https://doi.org/10.1182/blood-2015-04-640912
Published: 2015
Includes: Multimedia, Supplemental data
Journal Articles

Functional Correction of Lymphocytes and Dendritic Cells of Patients with WAS or XLT, Using Lentiviral Vectors Targeting the Expression of WAS Protein to Hematopoietic Cells.

Free
Sabine Charrier, PhD, Loic Dupre, PhD, Mike Blundell, PhD, Samantha Scaramuzza, Laurence Jeanson, PhD, William Vainchenker, MD, Olivier Danos, PhD, Maria-Grazia Roncarolo, MD, Adrian Thrasher, MD, Anne Galy, PhD
Journal: Blood
Blood (2005) 106 (11): 3042.
https://doi.org/10.1182/blood.V106.11.3042.3042
Published: 2005
Journal Articles

Patients with Lymphoma May Harbor Mutations of the Perforin Gene.

Free
Rita Clementi, M.D., Franco Locatelli, M.D., Loic Dupre, PhD, Alberto Garaventa, M.D., Lorenzo Emmi, M.D., Marco Bregni, M.D., Graziella Cefalo, M.D., Antonia Moretta, PhD, Cesare Danesino, M.D., Margherita Comis, M.D., Andrea Pession, M.D., Ugo Ramenghi, M.D., Rita Maccario, PhD, Maurizio Arico’, M.D., Maria Grazia Roncarolo, M.D.
Journal: Blood
Blood (2004) 104 (11): 1358.
https://doi.org/10.1182/blood.V104.11.1358.1358
Published: 2004
Journal Articles

Inherited Perforin and Fas Mutations in a Patient with Autoimmune Lymphoproliferative Syndrome and Lymphoma.

Free
Rita Clementi, Lorenzo Dagna, Umberto Dianzani, Loic Dupre, Irma Dianzani, Fabio Ciceri, Rita Maccario, Franco Locatelli, Cesare Danesino, Marina Ferrarini, Marco Bregni
Journal: Blood
Blood (2004) 104 (11): 1379.
https://doi.org/10.1182/blood.V104.11.1379.1379
Published: 2004