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Bénédicte Neven
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Journal Articles

Novel de novo dominant PSMB10 variants in three patients with immune deficiency and liver disease

Benjamin Fournier, Léa Poirier, Vincent Abramowski, Etienne Merlin, Hélène Deutsch, Paul Bastard, Isabelle Callebaut, Capucine Picard, Jérémie Rosain, Sébastien Küry, Stéphane Bézieau, Monique Fabre, Martin Castelle, Bénédicte Neven, Despina Moshous, Jean-Pierre de Villartay, Frédéric Ebstein
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250096.
https://doi.org/10.70962/jhi.20250096
Published: 18 November 2025
View article titled, Novel de novo dominant PSMB10 variants in three patients with immune deficiency and liver disease
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Includes: Supplementary data
Journal Articles

Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging

Emilie Pauline Buddingh, Mary Slatter, Juan Carlos Aldave Becerra, Laura Alonso Garcia, Erik von Asmuth, Safa Baris, Oscar de la Calle-Martín, Alice Y. Chan, Su-Wan Bianca Chan, Shanmuganathan Chandrakasan, Deepakbabu Chellapandian, Jasmeen Dara, Susan Farmand, Anders Fasth, Lisa Forbes Satter, Renata Formankova, Eyal Grunebaum, Steven J. Keogh, Ayça Kiykim, Jörn-Sven Kühl, Alexandra Laberko, Timothy Ronan Leahy, Caroline Lindemans, Caridad Martinez, Laura Martínez-Martínez, William Glenn Mitchell, Emma Morris, Joseph H. Oved, Maria Polacik, Jacques G. Rivière, Chaim M. Roifman, Sara Sebnem Kilic, Petr Sedlacek, Ami J. Shah, Linda Vong, Arjan C. Lankester, Michael H. Albert, Bénédicte Neven, Troy Torgerson, Jennifer Leiding, Catharina Schuetz, Inborn Errors Working Party (IEWP),, European Society for Blood and Marrow Transplantation (EBMT), and Primary Immunodeficiency Treatment Consortium (PIDTC)
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250027.
https://doi.org/10.70962/jhi.20250027
Published: 30 July 2025
View article titled, Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging
Open the PDF for Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging in another window
Includes: Supplementary data
Journal Articles

Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity

Najiba Alioua, Nathalie Lambert, Mathilde Puel, Sylvain Hanein, Paul Bastard, Mathieu Fusaro, Marie Jaffray, Bernardita Medel, Lydia Khellaf, Yoann Seeleuthner, Mélodie Perin, Corinne Jacques, Marlène Pasquet, Laura Olivier, Fernando Sepulveda, Tom Le Voyer, Aurélie Cobat, Patrick Nitschké, Lionel Galicier, Nicolas Schleinitz, Eric Oksenhendler, Marion Malphettes, Bénédicte Neven, Despina Moshous, Felipe Suarez, Claire Fieschi, Jean-Laurent Casanova, Geneviève de Saint Basile, Guillaume Dorval, Capucine Picard, Jacinta Bustamante, Peng Zhang, Jérémie Rosain
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250041.
https://doi.org/10.70962/jhi.20250041
Published: 17 July 2025
View article titled, Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity
Open the PDF for Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity in another window
Includes: Supplementary data
Journal Articles

Primary and Safety Outcomes of a Phase 3 Open-Label, Single-Arm, 12-Week Study of Treatment with PI3Kδ Inhibitor Leniolisib in Pediatric Patients Aged 4–11 Years with Activated PI3Kδ Syndrome (APDS)

V. Rao, Manish J. Butte, Bénédicte Neven, Michaela Semeraro, Yael Gernez, Shanmuganathan Chandrakasan, Hirokazu Kanegane, Takahiro Yasumi, Kazushi Izawa, Alanvin Orpia, Ladan Foruraghi, Lauren Pauls, Lavenda Chirombo Kluczynski, Jason Bradt, Anurag Relan, Gulbu Uzel
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.6.
https://doi.org/10.70962/CIS2025abstract.6
Published: 25 April 2025
View article titled, Primary and Safety Outcomes of a Phase 3 Open-Label, Single-Arm, 12-Week Study of Treatment with PI3Kδ Inhibitor Leniolisib in Pediatric Patients Aged 4–11 Years with Activated PI3Kδ Syndrome (APDS)
Journal Articles

Clinical Outcome and Quality of Life in Patients with ARPC1B Deficiency Managed Conservatively or with Allogeneic Hematopoietic Stem Cell Transplantation

Enrico Drago, Stefano Giardino, Bénédicte Neven, Michael Albert, Damiano Lemmi, Agathe Escudier, Gianluca Dell'orso, Juliana Fernandes, Leonardo Oliveira Mendonca, Sujal Ghosh, Ansgar Schulz, Luis Fernández-Pereira, Deniz Çağdaş, Hamid Ahanchian, Rana Tafrishi, Raed Alzyoud, Vedat Uygun, Luis Murguia-Favela, Marco Gattorno, Maura Faraci, Stefano Volpi
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.79.
https://doi.org/10.70962/CIS2025abstract.79
Published: 25 April 2025
View article titled, Clinical Outcome and Quality of Life in Patients with ARPC1B Deficiency Managed Conservatively or with Allogeneic Hematopoietic Stem Cell Transplantation