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Journal Articles

Investigating Neutropenia in FNIP1 Deficiency: A CRISPR/Cas9 Model in HL-60 Cells

Francesco Saettini, Fabiola Guerra, Benedetta Elena Di Majo, Mario Mauri, Federica Malighetti, Angela Maria Savino, Stefano Rebellato, Arnalda Lanfranchi, Cristina Bugarin, Cecilia Poli, Elma Nievas, Tim Niehues, Peter McNaughton, Selami Ulaş, Sven Kracker, Rocco Piazza, Grazia Fazio, Andrea Biondi
Journal: Blood
Blood (2024) 144 (Supplement 1): 2526.
https://doi.org/10.1182/blood-2024-209621
Published: 2024
Journal Articles

Clinical and functional spectrum of RAC2-related immunodeficiency

Clinical Trials & Observations
Ágnes Donkó, Svetlana O. Sharapova, Juraj Kabat, Sundar Ganesan, Fabian H. Hauck, Jenna R. E. Bergerson, Louis Marois, Jordan Abbott, Despina Moshous, Kelli W. Williams, Nicholas Campbell, Paul L. Martin, Chantal Lagresle-Peyrou, Timothy Trojan, Natalia B. Kuzmenko, Ekaterina A. Deordieva, Elena V. Raykina, Michael S. Abers, Hassan Abolhassani, Vincent Barlogis, Carlos Milla, Geoffrey Hall, Talal Mousallem, Joseph Church, Neena Kapoor, Guilhem Cros, Hugo Chapdelaine, Clara Franco-Jarava, Ingrid Lopez-Lerma, Maurizio Miano, Jennifer W. Leiding, Christoph Klein, Marie José Stasia, Alain Fischer, Kuang-Chih Hsiao, Timi Martelius, Mikko R. J. Sepännen, Sara Barmettler, Jolan Walter, Tania N. Masmas, Anna A. Mukhina, Emilia Liana Falcone, Sven Kracker, Anna Shcherbina, Steven M. Holland, Thomas L. Leto, Amy P. Hsu
Journal: Blood
Blood (2024) 143 (15): 1476–1487.
https://doi.org/10.1182/blood.2023022098
Published: 2024
Includes: Supplemental data
Journal Articles

Topoisomerase 2β mutation impairs early B-cell development

Clinical Trials & Observations
Olivier Papapietro, Anita Chandra, Davide Eletto, Sarah Inglott, Vincent Plagnol, James Curtis, Mailis Maes, Ali Alisaac, Adriana S. Albuquerque, Eugenie Basseres, Olivier Hermine, Capucine Picard, Alain Fischer, Anne Durandy, Sven Kracker, Siobhan O. Burns, Delphine Cuchet-Lourenco, Klaus Okkenhaug, Sergey Nejentsev
Journal: Blood
Blood (2020) 135 (17): 1497–1501.
https://doi.org/10.1182/blood.2019003299
Published: 2020
Includes: Supplemental data
Journal Articles

Increased activation of PI3 kinase-δ predisposes to B-cell lymphoma

Clinical Trials & Observations
Anne Durandy, Sven Kracker
Journal: Blood
Blood (2020) 135 (9): 638–643.
https://doi.org/10.1182/blood.2019002072
Published: 2020
Journal Articles

Primary Antibody Deficiencies: Scientific Discoveries Leading to Challenging Paradigms in a Complex Disease Landscape

Anne Durandy, MD PhD, Sven Kracker, PhD, Marina Cavazzana, MD PhD
Journal: Blood
Blood (2017) 130 (Supplement 1): SCI-28.
https://doi.org/10.1182/blood.V130.Suppl_1.SCI-28.SCI-28
Published: 2017
Journal Articles

Loss of p19Arf in a Rag1 −/− B-cell precursor population initiates acute B-lymphoblastic leukemia

Julia Hauer, Charles Mullighan, Estelle Morillon, Gary Wang, Julie Bruneau, Nicole Brousse, Marc Lelorc'h, Serge Romana, Amine Boudil, Daniela Tiedau, Sven Kracker, Frederic D. Bushmann, Arndt Borkhardt, Alain Fischer, Salima Hacein-Bey-Abina, Marina Cavazzana-Calvo
Journal: Blood
Blood (2011) 118 (3): 544–553.
https://doi.org/10.1182/blood-2010-09-305383
Published: 2011
Includes: Supplemental data