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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
Journal: Blood
Blood (2023) 142 (Supplement 1): 2545.
https://doi.org/10.1182/blood-2023-184559
Published: 2023
Journal Articles

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

Jean Donadieu, Aurelia Alimi, Anais Brassier, Blandine Beaupain, Camille Wicker, jean-Meidi Alili, Christine Bellanne-Chantelot, Amelie Chaussade, Martin Castelle, Mathlide Lamarque, Isabelle Plo, Lea Durix, Aude Pion, Sylvie Souquere, Caroline Marty, Pierre Simon Rohrlich, Karine Mention, Wadih Abouchahla, Marie Szymanowski, Myriam Dao, Felipe Suarez, Paola Parronchi, Boaz Palterer, Noemie Urvoy, Hélène Lapillonne, Fabrizio Andreelli, Emile Van Schaftingen, Philippe Labrune, Pascale De Lonlay, Maria Veiga Da Cunha
Journal: Blood
Blood (2022) 140 (Supplement 1): 8320–8322.
https://doi.org/10.1182/blood-2022-169243
Published: 2022
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
Journal: Blood
Blood (2021) 138 (Supplement 1): 986.
https://doi.org/10.1182/blood-2021-149759
Published: 2021
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
Journal: Blood
Blood (2020) 136 (Supplement 1): 22–23.
https://doi.org/10.1182/blood-2020-138540
Published: 2020
Journal Articles

Lenograstim and Filgrastim Have a Similar Efficacy and Safety Profile in the Treatment of Chronic Neutropenia. a Study for the French SCN Registry:

Jean Donadieu, MDPhD, Blandine Beaupain, Fares bou Mitri, Flore Sicre de Fontbrune, Despina Moushous, MD PhD, Thierry Lamy, PhD MD, Aline Moignet Autrel, MD, Elodie Gouache, Marlène Pasquet, MD, PhD, Christine Bellanne-Chantelot, PhD PharmD
Journal: Blood
Blood (2020) 136 (Supplement 1): 17–18.
https://doi.org/10.1182/blood-2020-138476
Published: 2020
Journal Articles

Congenital Neutropenia Is Also Associated with a High Cancer Risk: A Study from the French Severe Chronic Neutropenia Registry

Jean Donadieu, MDPhD, Fares bou Mitri, Blandine Beaupain, MsC, Yves Bertrand, MD, Pierre Simon Rohrlich, MDPhD, Nathalie Aladjidi, MD, Alexia Rouland, MD, Felipe Suarez, MDPhD, Andre Vanoli, Jean Fraisse, MD, Olivier Hermine, Philippe Descamps, Sylvie François, MD, Hélène Lapillonne, MD PhD, Marlène Pasquet, MD, PhD, Matthieu Patient, Ilona Okhremchuck, Didier Blaise, MD, Faezeh Legrand, MD, Claire Fieschi, MD PhD, Flore Sicre de Fontbrune, Sarah cohen Beaussant, didier Simon Kamioner, MD, Francoise Bachelerie, PhD, Claire Deback, MD PhD, Christine Bellanne-Chantelot, PhD PharmD, Jean-François Emile, MD PhD
Journal: Blood
Blood (2020) 136 (Supplement 1): 15–16.
https://doi.org/10.1182/blood-2020-136053
Published: 2020
Journal Articles

How Many Patients Have Congenital Neutropenia? a Population-Based Estimation from the Nationwide French Severe Chronic Neutropenia Registry

Jean Donadieu, MDPhD, Blandine Beaupain, MsC, Hélène Lapillonne, MD PhD, Odile Fenneteau, PharmD, Flore Sicre de Fontbrune, Yves Bertrand, MD, Nathalie Aladjidi, MD, Vincent Barlogis, MD, PhD, Wadih Abou Chahla, MD, Thierry Lamy, PhD MD, Aline Moignet Autrel, MD, Claire Fieschi, MD PhD, Thierry Leblanc, MD, Despina Moshous, MD PhD, Jean Soulier, MDPhD, Sarah cohen Beaussant, Francois Delhommeau, MD PhD, Helene Cavé, PharmD, PhD, Catherine Paillard, MD PhD, Elodie Gouache, MD, Fares bou Mitri, Damien Bonnet, Laurence Olivier Faivre, Philippe Labrune, MD PhD, Marlène Pasquet, MD, PhD, Virginie Gandemer, MD PhD, Nizar Mahlaoui, MD, Karl Balabanian, Francoise Bachelerie, PhD, Christine Bellanne-Chantelot, PhD PharmD
Journal: Blood
Blood (2020) 136 (Supplement 1): 40–41.
https://doi.org/10.1182/blood-2020-135912
Published: 2020
Journal Articles

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

Shengjiang Tan, Laëtitia Kermasson, Angela Hoslin, Pekka Jaako, Alexandre Faille, Abraham Acevedo-Arozena, Etienne Lengline, Dana Ranta, Maryline Poirée, Odile Fenneteau, Hubert Ducou le Pointe, Stefano Fumagalli, Blandine Beaupain, Patrick Nitschké, Christine Bôle-Feysot, Jean-Pierre de Villartay, Christine Bellanné-Chantelot, Jean Donadieu, Caroline Kannengiesser, Alan J. Warren, Patrick Revy
Journal: Blood
Blood (2019) 134 (3): 277–290.
https://doi.org/10.1182/blood.2018893404
Published: 2019
Includes: Supplemental data
Journal Articles

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome

Christine Bellanné-Chantelot, Barbara Schmaltz-Panneau, Caroline Marty, Odile Fenneteau, Isabelle Callebaut, Séverine Clauin, Aurélie Docet, Gandhi-Laurent Damaj, Thierry Leblanc, Isabelle Pellier, Cécile Stoven, Sylvie Souquere, Iléana Antony-Debré, Blandine Beaupain, Nathalie Aladjidi, Vincent Barlogis, Frédéric Bauduer, Philippe Bensaid, Odile Boespflug-Tanguy, Claire Berger, Yves Bertrand, Liana Carausu, Claire Fieschi, Claire Galambrun, Aline Schmidt, Hubert Journel, Françoise Mazingue, Brigitte Nelken, Thuan Chong Quah, Eric Oksenhendler, Marie Ouachée, Marlène Pasquet, Véronique Saada, Felipe Suarez, Gérard Pierron, William Vainchenker, Isabelle Plo, Jean Donadieu
Journal: Blood
Blood (2018) 132 (12): 1318–1331.
https://doi.org/10.1182/blood-2017-12-820308
Published: 2018
Includes: Supplemental data
Journal Articles

Frequency and Evolution of TP53 Mutant Clones in Shwachman Diamond Syndrome. a Cohort Study from the French Severe Chronic Neutropenia (SCN) Registry

Jean Donadieu, MD, Jean-Alain Martignoles, MD, Blandine Beaupain, MsC, Pascale Flandrin-Gresta, MD, Hannah Moatti, MD, Pierre Hirsch, MDPhD, Despina Moshous, Stephane Blanche, MD, Dalila Adjaoud, MD, Etienne Merlin, MD, Fanny Fouyssac, MD, Ouahiba Nachit, MsC, Yves Bertrand, MD, Virginie Gandemer, MDPhD, Nathalie Aladjidi, MD, Marlène Pasquet, MD, Thierry Leblanc, MD, Vincent Barlogis, MD, Isabelle Meitz, MDPhD, Vahid Asnafi, MD PhD, Guy Leverger, MD PhD, Hélène Lapillonne, MD PhD, Christine bellanne Chantelot, MDPhD, Francois Delhommeau, MD PhD
Journal: Blood
Blood (2017) 130 (Supplement 1): 780.
https://doi.org/10.1182/blood.V130.Suppl_1.780.780
Published: 2017
Journal Articles

Mutations in SRP54 Gene Cause Severe Primary Neutropenia As Well As Shwachman-Diamond-like Syndrome

Christine Bellanné-Chantelot, PharmD, PhD, Caroline Marty, PhD, Barbara Schmaltz-Panneau, PhD, Odile Fenneteau, MD, Isabelle Callebaut, PhD, Séverine Clauin, Aurélie Docet, Gandhi Damaj, MD, Thierry Leblanc, MD, Isabelle Pellier, MD, Cécile Stoven, MD, Sylvie Souquere, PhD, Iléana Antony-Debre, PhD, Blandine Beaupain, MsC, Nathalie Aladjidi, MD, Vincent Barlogis, MD, Frederic Bauduer, MD PhD, Philippe Bensaid, MD, Odile Boesflug-Tanguy, MDPhD, Claire Berger, MD, Yves Bertrand, MD, Liana Carausu, MD, Claire Fieschi, MD PhD, Claire Galambrun, MD, Aline Schmidt, MD, Hubert Journel, MD, Francoise Mazingue, MD, Brigitte Nelken, MD, Thuan Chong Quah, MD, Eric Oksenhendler, MD, Marie Ouachee, MD, Marlène Pasquet, MD, Felipe Suarez, MDPhD, Gérard Pierron, PhD, William Vainchenker, MD PhD, Isabelle Plo, PhD, Jean Donadieu, MD
Journal: Blood
Blood (2017) 130 (Supplement 1): LBA-3.
https://doi.org/10.1182/blood.V130.Suppl_1.LBA-3.LBA-3
Published: 2017
Journal Articles

G-CSF Vs Haematopoietic Stem Cell Transplantation in Severe Congenital Neutropenia with ELANE Mutation: Role of G-CSF Dose. a Retrospective Controlled Study on Behalf of Saawp (Severe Aplastic Anemia Working Party) of the EBMT, of the Stem Cell Transplant for Immunodeficiency Group in Europe (SCETIDE), of the Severe Chronic Neutropenia French Registry (SCNFR) and Italian Neutropenia Registry (INR)

Francesca Fioredda, MD, Filomena Pierri, Sabrina Zanardi, Bobby Gaspar, Phil Ancliff, Marc Bierings, MD PhD, Gulyuz Ozturk, Owen Smith, MD, Paul Veys, MD PhD, Per Ljungman, Regis Peffault De Latour, MD PhD, Reuven Or, MD, Robert Wynn, MD, Krzysztof Kalwak, MD, Giovanna Russo, MD, Fabio Tucci, MD, Christine M. Knoll, MD, Baldo Martire, Claudio Favre, MD, Christine bellanne Chantelot, MDPhD, Blandine Beaupain, MsC, Jean Donadieu, MD, Carlo Dufour, MD
Journal: Blood
Blood (2017) 130 (Supplement 1): 2267.
https://doi.org/10.1182/blood.V130.Suppl_1.2267.2267
Published: 2017
Journal Articles

Hematopoietic Stem Cell Transplantation May Lower the Risk of Leukemia in ELANE Neutropenia: Historical Trends from a French Severe Chronic Neutropenia Registry (FSCNR) Cohort

Jean Donadieu, MD, Blandine Beaupain, MsC, Fanny Rialland, MD, Catherine Paillard, MDPhD, Ouahiba Nachit, MsC, Claire Galambrun, MD, Virginie Gandemer, MDPhD, Yves Bertrand, MD, Benedicte Neven, MD, Despina Moshous, Flore Sicre De Fontbrune, MD, Regis peffault De La Tour, MDPhD, Marie Ouachee, MD, Christine bellanne Chantelot, MDPhD, Jean-Hugues Dalle, MD PhD
Journal: Blood
Blood (2017) 130 (Supplement 1): 546.
https://doi.org/10.1182/blood.V130.Suppl_1.546.546
Published: 2017
Journal Articles

Severe chronic primary neutropenia in adults: report on a series of 108 patients

Clinical Trials & Observations
Flore Sicre de Fontbrune, Aline Moignet, Blandine Beaupain, Felipe Suarez, Lionel Galicier, Gérard Socié, Bruno Varet, Paul Coppo, Marc Michel, Cécile Pautas, Eric Oksenhendler, Etienne Lengline, Louis Terriou, Philippe Moreau, Sylvain Chantepie, Nicole Casadevall, Jean Marie Michot, Martine Gardembas, Mauricette Michallet, Laure Croisille, Marie Audrain, Christine Bellanné-Chantelot, Jean Donadieu, Thierry Lamy
Journal: Blood
Blood (2015) 126 (14): 1643–1650.
https://doi.org/10.1182/blood-2015-03-634493
Published: 2015
Includes: Supplemental data
Journal Articles

High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia

Marlène Pasquet, Christine Bellanné-Chantelot, Suzanne Tavitian, Naïs Prade, Blandine Beaupain, Olivier LaRochelle, Arnaud Petit, Pierre Rohrlich, Christophe Ferrand, Eric Van Den Neste, Hélène A. Poirel, Thierry Lamy, Marie Ouachée-Chardin, Véronique Mansat-De Mas, Jill Corre, Christian Récher, Geneviève Plat, Françoise Bachelerie, Jean Donadieu, Eric Delabesse
Journal: Blood
Blood (2013) 121 (5): 822–829.
https://doi.org/10.1182/blood-2012-08-447367
Published: 2013
Includes: Supplemental data
Journal Articles

Update On the Risk of Leukemia in Genetic Subgroups of Congenital Neutropenia (CN): Comparison of Patients with Known Gene Mutations ( ELA2 , HAX1, WASP, G6PC3, p14) .

Cornelia Zeidler, MD, Jean Donadieu, MD, Audrey Anna Bolyard, R.N., B.S., Peter Vandenberghe, MD, PhD, Gusal Pracht, Blandine Beaupain, Ludwig Hoy, Dr.rer.nat., Martin Zimmermann, PhD, Christine Bellanne-Chantelot, Daniel C Link, Christoph Klein, Manuela Germeshausen, PhD, David C. Dale, MD, Karl Welte
Journal: Blood
Blood (2009) 114 (22): 3597.
https://doi.org/10.1182/blood.V114.22.3597.3597
Published: 2009
Journal Articles

Risk of Leukemia in Genetic Subgroups of Congenital Neutropenia (CN): Comparison of Patients with Mutations in HAX1 or ELA2

Cornelia Zeidler, MD, Jean Donadieu, MD, Gusal Pracht, Blandine Beaupain, Ludwig Hoy, PhD, Martin Zimmermann, PhD, Christine Bellanne-Chantelot, Christoph Klein, Manuela Germeshausen, Karl Welte
Journal: Blood
Blood (2008) 112 (11): 2532.
https://doi.org/10.1182/blood.V112.11.2532.2532
Published: 2008