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Journal Articles

Incidence of Myeloid Malignancy in Shwachman-Diamond Syndrome: An International Cohort Study

Blood (2024) 144 (Supplement 1): 2703.

https://doi.org/10.1182/blood-2024-206661

Published: 2024

Journal Articles

Prognostic Value of BRAFV600E in Peripheral Blood of Children with Langerhans Cell Histiocytosis: A Multicenter Project of the European Consortium for Histiocytosis

Linda Beneforti, Paul Milne, Aurora Chinnici, Maria Luisa Coniglio, Sébastien Héritier, Astrid Van Halteren, Caroline Hutter, Irene Trambusti, Francesco Pegoraro, Zofia Hélias-Rodzewicz, Raphaela Schwentner, Natasja Roozeboom, Michele Tanturli, Jean-Francois Emile, Cor Van Den Bos, Milen Minkov, Jean Donadieu, Matthew Collin, Elena Sieni

Blood (2024) 144 (Supplement 1): 3908.

https://doi.org/10.1182/blood-2024-206118

Published: 2024

Journal Articles

Childhood Langerhans cell histiocytosis hematological involvement: severity associated with BRAFV600E loads

Blood blood.2024025625.

https://doi.org/10.1182/blood.2024025625

Published: 2024

Includes: Supplemental data

Journal Articles

A phase 3 randomized trial of mavorixafor, a CXCR4 antagonist, for WHIM syndrome

Blood (2024) 144 (1): 35–45.

https://doi.org/10.1182/blood.2023022658

Published: 2024

Includes: Supplemental data

Journal Articles

Fertility and Pregnancy in Patients with Congenital Neutropenia: Experience of the French Severe Chronic Neutropenia Registry in 565 Patients Above Age of 15 Years

Aurelia Alimi, Evrard Nika, Blandine Beaupain, Claire Fieschi, Flore Sicre De Fontbrune, Nathalie Aladjidi, Despina Moshous, Aline Moignet.Autrel, Coralie Mallebranche, Martin Biosse Duplan, Christine Bellanne-Chantelot, Jean Donadieu

Blood (2023) 142 (Supplement 1): 2545.

https://doi.org/10.1182/blood-2023-184559

Published: 2023

Journal Articles

Hematological Involvement in Childhood Langerhans Cell Histiocytosis: A Cohort Study of 303 Patients

Blood (2023) 142 (Supplement 1): 4573.

https://doi.org/10.1182/blood-2023-184588

Published: 2023

Journal Articles

Childhood-onset Erdheim-Chester disease in the molecular era: clinical phenotypes and long-term outcomes of 21 patients

Blood (2023) 142 (13): 1167–1171.

https://doi.org/10.1182/blood.2023020569

Published: 2023

Includes: Supplemental data

Journal Articles

NT-Probnp and High-Sensitivity Troponin T Fail to Detect Cardiac Involvement in Erdheim-Chester Disease

Levi-Dan Azoulay, Chezi Ganzel, Marine Bravetti, Zahir Amoura, Jean Donadieu, Philippe Cluzel, Fleur Cohen-Aubart, Julien Haroche

Blood (2022) 140 (Supplement 1): 3997–3998.

https://doi.org/10.1182/blood-2022-157532

Published: 2022

Journal Articles

Oral SGLT2 Inhibitors in Glycogen Storage Disease Type Ib and G6PC3-Deficiency. Preliminary Results from an Off-Label Study of 21 Patients

Blood (2022) 140 (Supplement 1): 8320–8322.

https://doi.org/10.1182/blood-2022-169243

Published: 2022

Journal Articles

The Morphologic Spectrum of Myelokathexis in WHIM Syndrome and Germline CXCR4 Variants: New Insights into Cellular Changes in the Bone Marrow and Peripheral Blood

Blood (2022) 140 (Supplement 1): 5487–5489.

https://doi.org/10.1182/blood-2022-155692

Published: 2022

Journal Articles

Heterozygous variants of CLPB are a cause of severe congenital neutropenia

Julia T. Warren, Ryan R. Cupo, Peeradol Wattanasirakul, David H. Spencer, Adam E. Locke, Vahagn Makaryan, Audrey Anna Bolyard, Merideth L. Kelley, Natalie L. Kingston, James Shorter, Christine Bellanné-Chantelot, Jean Donadieu, David C. Dale, Daniel C. Link

Blood (2022) 139 (5): 779–791.

https://doi.org/10.1182/blood.2021010762

Published: 2022

Includes: Supplemental data

Journal Articles

ALK-positive histiocytosis: a new clinicopathologic spectrum highlighting neurologic involvement and responses to ALK inhibition

Paul G. Kemps, Jennifer Picarsic, Benjamin H. Durham, Zofia Hélias-Rodzewicz, Laura Hiemcke-Jiwa, Cor van den Bos, Marianne D. van de Wetering, Carel J. M. van Noesel, Jan A. M. van Laar, Robert M. Verdijk, Uta E. Flucke, Pancras C. W. Hogendoorn, F. J. Sherida H. Woei-A-Jin, Raf Sciot, Andreas Beilken, Friedrich Feuerhake, Martin Ebinger, Robert Möhle, Falko Fend, Antje Bornemann, Verena Wiegering, Karen Ernestus, Tina Méry, Olga Gryniewicz-Kwiatkowska, Bozenna Dembowska-Baginska, Dmitry A. Evseev, Vsevolod Potapenko, Vadim V. Baykov, Stefania Gaspari, Sabrina Rossi, Marco Gessi, Gianpiero Tamburrini, Sébastien Héritier, Jean Donadieu, Jacinthe Bonneau-Lagacherie, Claire Lamaison, Laure Farnault, Sylvie Fraitag, Marie-Laure Jullié, Julien Haroche, Matthew Collin, Jackie Allotey, Majid Madni, Kerry Turner, Susan Picton, Pasquale M. Barbaro, Alysa Poulin, Ingrid S. Tam, Dina El Demellawy, Brianna Empringham, James A. Whitlock, Aditya Raghunathan, Amy A. Swanson, Mariko Suchi, Jon M. Brandt, Nabeel R. Yaseen, Joanna L. Weinstein, Irem Eldem, Bryan A. Sisk, Vaishnavi Sridhar, Mandy Atkinson, Lucas R. Massoth, Jason L. Hornick, Sanda Alexandrescu, Kee Kiat Yeo, Kseniya Petrova-Drus, Stephen Z. Peeke, Laura S. Muñoz-Arcos, Daniel G. Leino, David D. Grier, Robert Lorsbach, Somak Roy, Ashish R. Kumar, Shipra Garg, Nishant Tiwari, Kristian T. Schafernak, Michael M. Henry, Astrid G. S. van Halteren, Oussama Abla, Eli L. Diamond, Jean-François Emile

Blood (2022) 139 (2): 256–280.

https://doi.org/10.1182/blood.2021013338

Published: 2022

Includes: Supplemental data

Journal Articles

EFL1 deficiency: a little is better than nothing

Patrick Revy, Jean Donadieu

Blood (2021) 138 (21): 2016–2018.

https://doi.org/10.1182/blood.2021012724

Published: 2021

Journal Articles

Global Phase 3, Randomized, Placebo-Controlled Trial with Open-Label Extension Evaluating the Oral CXCR4 Antagonist Mavorixafor in Patients with WHIM Syndrome (4WHIM): Trial Design and Enrollment

Blood (2021) 138 (Supplement 1): 4310.

https://doi.org/10.1182/blood-2021-153346

Published: 2021

Journal Articles

Pediatric Erdheim-Chester Disease in the Molecular Era: A Multicenter Case Series

Francesco Pegoraro, Elena Gelain, Stefania Gaspari, Jean Donadieu, Jean-François Emile, Elena Sieni, Julien Haroche, Augusto Vaglio

Blood (2021) 138 (Supplement 1): 4194.

https://doi.org/10.1182/blood-2021-150140

Published: 2021

Journal Articles

ELANE Neutropenia Beyond the Classification into Cyclic Neutropenia and Severe Congenital Neutropenia: The Inconstant Time Clock

Gioacchino Andrea Rotulo, Blandine Beaupain, Jean Donadieu

Blood (2021) 138 (Supplement 1): 986.

https://doi.org/10.1182/blood-2021-149759

Published: 2021

Journal Articles

Oral Administration of Mavorixafor, a CXCR4 Antagonist, Increases Peripheral White Blood Cell Counts across Different Disease States

David C. Dale, Steven P. Treon, David F. McDermott, Diego Cadavid, Xia Luo, Varun Garg, Weihua Tang, Honghua Jiang, Kelly Chen, Arthur G. Taveras, Ashish Bhandari, Jean Donadieu

Blood (2021) 138 (Supplement 1): 2186.

https://doi.org/10.1182/blood-2021-152990

Published: 2021

Journal Articles

CXCR4 signaling controls dendritic cell location and activation at steady state and in inflammation

Carmen Gallego, Mathias Vétillard, Joseph Calmette, Mélanie Roriz, Viviana Marin-Esteban, Maximilien Evrard, Marie-Laure Aknin, Nicolas Pionnier, Manon Lefrançois, Françoise Mercier-Nomé, Yves Bertrand, Felipe Suarez, Jean Donadieu, Lai Guan Ng, Karl Balabanian, Françoise Bachelerie, Géraldine Schlecht-Louf

Blood (2021) 137 (20): 2770–2784.

https://doi.org/10.1182/blood.2020006675

Published: 2021

Includes: Supplemental data

Journal Articles

High frequency of clonal hematopoiesis in Erdheim-Chester disease

Fleur Cohen Aubart, Damien Roos-Weil, Marine Armand, Alice Marceau-Renaut, Jean-François Emile, Nicolas Duployez, Frédéric Charlotte, Stéphanie Poulain, Raphael Lhote, Zofia Hélias-Rodzewicz, Véronique Della-Valle, Olivier Bernard, Karim Maloum, Florence Nguyen-Khac, Jean Donadieu, Zahir Amoura, Omar Abdel-Wahab, Julien Haroche

Blood (2021) 137 (4): 485–492.

https://doi.org/10.1182/blood.2020005101

Published: 2021

Includes: Supplemental data

Journal Articles

Impact and Dynamics of TP53 Mutated Clones in Shwachman Diamond Syndrome in a Series of 80 Patients

Jean-Alain Martignoles, Pierre Hirsch, MD PhD, Blandine Beaupain, Thomas Longval, MD, Nawa Hachem, MsC, Mira El-Khoury, PhD, Sophie Kaltenbach, Jean Soulier, MDPhD, Thierry Leblanc, MD, Pierre Simon Rohrlich, MDPhD, Eric Jeziorski, MDPhD, Isabelle Meyts, Dalila Adjaoud, MD, Vincent Barlogis, MD, PhD, Marlène Pasquet, MD, PhD, Laetitia Largeaud, Flore Sicre de Fontbrune, Claire Fieschi, MD PhD, Virginie Gandemer, MD PhD, Nathalie Aladjidi, MD, Fanny Fouyssac, MD, Guy Leverger, MD, Wadih Abou Chahla, MD, Stephane Blanche, MD, Despina Moushous, MD PhD, Aline Moignet Autrel, MD, Yves Bertrand, MD, Cecile Renard, Pascale Flandrin-Gresta, MD, Jean Louis Stephan, MDPhD, Olivier Tournilhac, MD PhD, Liana Carausu, Frederic Millot, MD, Marielaure Couec, MD, Claude Preudhomme, MD PhD, Hélène Lapillonne, MD PhD, Vahid Asnafi, MD PhD, Patrick Revy, Christine Bellanne-Chantelot, PhD PharmD, Francois Delhommeau, MD PhD, Jean Donadieu, MDPhD

Blood (2020) 136 (Supplement 1): 22–23.

https://doi.org/10.1182/blood-2020-138540

Published: 2020

NARROW

Incidence of Myeloid Malignancy in Shwachman-Diamond Syndrome: An International Cohort Study

Prognostic Value of BRAFV600E in Peripheral Blood of Children with Langerhans Cell Histiocytosis: A Multicenter Project of the European Consortium for Histiocytosis

Childhood Langerhans cell histiocytosis hematological involvement: severity associated with BRAFV600E loads

A phase 3 randomized trial of mavorixafor, a CXCR4 antagonist, for WHIM syndrome

Fertility and Pregnancy in Patients with Congenital Neutropenia: Experience of the French Severe Chronic Neutropenia Registry in 565 Patients Above Age of 15 Years

Hematological Involvement in Childhood Langerhans Cell Histiocytosis: A Cohort Study of 303 Patients

Childhood-onset Erdheim-Chester disease in the molecular era: clinical phenotypes and long-term outcomes of 21 patients

NT-Probnp and High-Sensitivity Troponin T Fail to Detect Cardiac Involvement in Erdheim-Chester Disease

Oral SGLT2 Inhibitors in Glycogen Storage Disease Type Ib and G6PC3-Deficiency. Preliminary Results from an Off-Label Study of 21 Patients

The Morphologic Spectrum of Myelokathexis in WHIM Syndrome and Germline CXCR4 Variants: New Insights into Cellular Changes in the Bone Marrow and Peripheral Blood

Heterozygous variants of CLPB are a cause of severe congenital neutropenia

ALK-positive histiocytosis: a new clinicopathologic spectrum highlighting neurologic involvement and responses to ALK inhibition

EFL1 deficiency: a little is better than nothing

Global Phase 3, Randomized, Placebo-Controlled Trial with Open-Label Extension Evaluating the Oral CXCR4 Antagonist Mavorixafor in Patients with WHIM Syndrome (4WHIM): Trial Design and Enrollment

Pediatric Erdheim-Chester Disease in the Molecular Era: A Multicenter Case Series

ELANE Neutropenia Beyond the Classification into Cyclic Neutropenia and Severe Congenital Neutropenia: The Inconstant Time Clock

Oral Administration of Mavorixafor, a CXCR4 Antagonist, Increases Peripheral White Blood Cell Counts across Different Disease States

CXCR4 signaling controls dendritic cell location and activation at steady state and in inflammation

High frequency of clonal hematopoiesis in Erdheim-Chester disease

Impact and Dynamics of TP53 Mutated Clones in Shwachman Diamond Syndrome in a Series of 80 Patients

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American Society of Hematology

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American Society of Hematology

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