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Journal Articles

Identification of Hepatic-like Erythropoietin with Enhanced Activity As a New Cause of Hereditary and Acquired Erythrocytosis

Laurent Martin, Darko Maric, Salam Idriss, Marine Delamare, Amandine Le Roy, Nada Maaziz, Amandine Caillaud, Karim Si-Tayeb, Florence Robriquet, Marion Lenglet, Lucie Erceau, Christine Bellanné-Chantelot, Isabelle Plo, Bernard Aral, Céline Garrec, Fabrice Airaud, Clara Gianfermi, Vincent Antunes, Anna Keppner, Sarah Mathilda Vincent, Alexis Desfontaine, Nina Modé, Fabien Laporte, Anne Gaignerie, Caroline Chariau, Isabelle Leray, Coline Rogue, Laurent David, Richard Redon, Stephane Bezieau, Lamisse Mansour, Frederic Galacteros, Thibault Maillet, Marlène Pasquet, Pierre Cougoul, Anne-Marie Nloga, Claude Gardin, Corinne Guitton, Viviane Dubruille, Vannina Giacobbi-Milet, Thierry Leblanc, Zuhre Kaya, Denis Semama, Chloe James, Serge Carillo, Marlène Ochmann, Anders Waage, Erwan Mortier, Mike Maillasson, Agnès Quéméner, Holger Cario, Radek C. Skoda, Yaël Zermati, David Hoogewijs, Alexandre Marchand, Francois Girodon, Betty Gardie

Blood (2024) 144 (Supplement 2): LBA-2.

https://doi.org/10.1182/blood-2024-213000

Published: 2024

Journal Articles

An Atypical Somatic Calr Variant Acquired in Cis to a Germline Calr variant Induces Constitutive Signaling of the Thrombopoietin Receptor and Results in Essential Thrombocythemia

Laetitia Borderon, Jihyun Song, Soo Jin Kim, Christophe Marzac, Christine Bellanné-Chantelot, Nicolas Papadopoulos, Stefan N. Constantinescu, William Vainchenker, Isabelle Plo, Josef T. Prchal, Caroline Marty

Blood (2023) 142 (Supplement 1): 3161.

https://doi.org/10.1182/blood-2023-179381

Published: 2023

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

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

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

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

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

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

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

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

Blood (2019) 134 (3): 277–290.

https://doi.org/10.1182/blood.2018893404

Published: 2019

Includes: Supplemental data

Journal Articles

ATG2B/Gskip in De Novo Acute Myeloid Leukemia (AML): High Prevalence of Germline Predisposition in French West Indies and Potential Role of Overexpression in Acquired AML

Blood (2018) 132 (Supplement 1): 1482.

https://doi.org/10.1182/blood-2018-99-110366

Published: 2018

Journal Articles

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

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

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

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)

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

Blood (2017) 130 (Supplement 1): 546.

https://doi.org/10.1182/blood.V130.Suppl_1.546.546

Published: 2017

Journal Articles

New Insights into Mechanisms of Erythropoietin Receptor Mutations in Primary Familial and Congenital Polycythemia

Florence Pasquier, MD PhD, Caroline Marty, PhD, Frédérique Verdier, PhD, Sarah Grosjean, MBiol, Claude Préhu, MD, Stefan N. Constantinescu, MD PhD, Hana Raslova, PhD, Nicole Casadevall, MD, William Vainchenker, MD PhD, Christine Bellanné-Chantelot, PharmD, PhD, Isabelle Plo, PhD

Blood (2016) 128 (22): 631.

https://doi.org/10.1182/blood.V128.22.631.631

Published: 2016

Journal Articles

Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients

Blood (2016) 127 (3): 333–342.

https://doi.org/10.1182/blood-2015-07-661983

Published: 2016

Includes: Supplemental data

Journal Articles

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

Blood (2015) 126 (14): 1643–1650.

https://doi.org/10.1182/blood-2015-03-634493

Published: 2015

Includes: Supplemental data

Journal Articles

Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors

Caroline Marty, Cécile Saint-Martin, Christian Pecquet, Sarah Grosjean, Joseph Saliba, Céline Mouton, Emilie Leroy, Ashot S. Harutyunyan, Jean-François Abgrall, Rémi Favier, Aurélie Toussaint, Eric Solary, Robert Kralovics, Stefan N. Constantinescu, Albert Najman, William Vainchenker, Isabelle Plo, Christine Bellanné-Chantelot

Blood (2014) 123 (9): 1372–1383.

https://doi.org/10.1182/blood-2013-05-504555

Published: 2014

Includes: Supplemental data

NARROW

Identification of Hepatic-like Erythropoietin with Enhanced Activity As a New Cause of Hereditary and Acquired Erythrocytosis

An Atypical Somatic Calr Variant Acquired in Cis to a Germline Calr variant Induces Constitutive Signaling of the Thrombopoietin Receptor and Results in Essential Thrombocythemia

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

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

Heterozygous variants of CLPB are a cause of severe congenital neutropenia

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

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

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

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

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

ATG2B/Gskip in De Novo Acute Myeloid Leukemia (AML): High Prevalence of Germline Predisposition in French West Indies and Potential Role of Overexpression in Acquired AML

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

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

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

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

New Insights into Mechanisms of Erythropoietin Receptor Mutations in Primary Familial and Congenital Polycythemia

Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients

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

Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors

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American Society of Hematology

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ASH Publications

American Society of Hematology

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