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Journal Articles

Late onset and long lasting neutropenia & primary immune-dysregulation : Early signals & genetic connections

Maria Carla Giarratana, Paola Terranova, Marina Lanciotti, Maurizio Miano, Elena Palmisani, Gianluca Dell'Orso, Marco Tornesello, Riccardo Morini, Domenico Coviello, Carlo Dufour, Francesca Fioredda

Blood (2025) 146 (Supplement 1): 1203.

https://doi.org/10.1182/blood-2025-1203

Published: 2025

Journal Articles

Rare germline complement gene variants in severe aplastic anemia

Luca Arcuri, Emma Groarke, Ruba Shalhoub, Lemlem Alemu, Olga Rios, Diego Quinones Raffo, Joshua Glass, Sachiko Kajigaya, Pedro Prata, Carlo Dufour, Neal Young, Bhavisha Patel, Fernanda Gutierrez-Rodrigues

Blood (2025) 146 (Supplement 1): 1421.

https://doi.org/10.1182/blood-2025-1421

Published: 2025

Journal Articles

The CSMD1 gene is involved in hematopoietic stem cell HSC pruning in patients with acquired immune-mediated aplastic anemia

Antonio Risitano, Deniz Ece Kaya, Simona Iacobelli, Riley Cook, Giorgio Napolitani, Sila Gerlevik, Mohammad M Karimi, Nogayhan Seymen, Flore Sicre-de-Fontbrune, Morag Griffin, Camilla Frieri, Carlo Dufour, Regis Peffault De Latour, Ghulam Mufti, Austin Kulasekararaj

Blood (2025) 146 (Supplement 1): 4982.

https://doi.org/10.1182/blood-2025-4982

Published: 2025

Journal Articles

Allogeneic hematopoietic cell transplantation in dyskeratosis congenita: Short and long- term outcome of 183 consecutive patients transplanted at EBMT centers

Blood (2025) 146 (Supplement 1): 2490.

https://doi.org/10.1182/blood-2025-2490

Published: 2025

Journal Articles

Deep immune signature of immune-mediated aplastic anemia patients shows distinct subsets of regulatory T cells associated with response to treatment: Results from the phase 3, randomized EBMT race clinical trial

Blood (2025) 146 (Supplement 1): 26.

https://doi.org/10.1182/blood-2025-26

Published: 2025

Journal Articles

Eltrombopag Added to Standard Immunosuppressive Treatment Improves Long-Term Outcomes As Front-Line Therapy for Severe Aplastic Anemia: Final 2-Year Analysis of EBMT-Saawp Race Study

Antonio M Risitano, Simona Iacobelli, Austin G. Kulasekararaj, Marleen Van Os, Sophie Terwel, Morag Griffin, Constantijn J.M. Halkes, Christian Recher, Fiorenza Barraco, Edouard Forcade, Carlos Vallejo, Beatrice Drexler, Jean-Baptiste Méar, Alexander Smith, Emanuele Angelucci, Reinier Raymakers, Marco R De Groot, Etienne Daguindau, Erfan Nur, Wilma Barcellini, Nigel H. Russell, Louis Terriou, Anna Paola Iori, Walter Barberi, Anna Sureda Balari, Isabel Sanchez-Ortega, Blanca Xicoy, Isidro Jarque Ramos, Jamie Cavenagh, Flore Sicre De Fontbrune, Camilla Frieri, Talha Munir, Jennifer Tjon, Suzanne Tavitian, Aline Praire, Laurence Clement, Florence Rabian, Luana Marano, Anita Hill, Elena Palmisani, Petra Muus, Serena Marotta, Fabiana Cacace, Marica Laurino, Jakob Passweg, Sr., Judith Marsh, Gerard Socie, Ghulam Mufti, Carlo Dufour, Regis Peffault De Latour

Blood (2024) 144 (Supplement 1): 302.

https://doi.org/10.1182/blood-2024-194699

Published: 2024

Journal Articles

Unsupervised Analysis Applied to a Cohort of Likely Acquired Neutropenia: Is It a Unique Entity ?

Francesca Fioredda, Saba Kainat, Giacomo Cavalca, Mariacarla Giarratana, Gianluca Dell'Orso, Luca Arcuri, Paolo Uva, Davide Cangelosi, Carlo Dufour

Blood (2024) 144 (Supplement 1): 2533.

https://doi.org/10.1182/blood-2024-201306

Published: 2024

Journal Articles

Dynamics of Oligoclonal Hematopoiesis in Severe Aplastic Anemia Patients Undergoing Immunosuppressive Treatment: Longitudinal Somatic Mutation Analysis from the EBMT Race Trial

Blood (2024) 144 (Supplement 1): 33.

https://doi.org/10.1182/blood-2024-206632

Published: 2024

Journal Articles

Incidence, Time to Diagnosis, and Therapeutic Landscape of Aplastic Anemia: Results from a Large United States Claims Database

Phillip Scheinberg, Tim H. H. Brummendorf, Regis Peffault De Latour, Carlo Dufour, Raj Gokani, Morag Griffin, Juliana Hey-Hadavi, Yoshinobu Kanda, Eric Mitchell, Barbara Możejko-Pastewka, Andres Quintero, Patryk Skowron, Meltem Kurt Yüksel, Alicia Rovó

Blood (2024) 144 (Supplement 1): 2329.

https://doi.org/10.1182/blood-2024-204908

Published: 2024

Journal Articles

Application of Machine Learning in the Diagnostic Work-up of Telomere Biology Disorders

Blood (2024) 144 (Supplement 1): 1327.

https://doi.org/10.1182/blood-2024-207688

Published: 2024

Journal Articles

Early Detection of Immune-Dysregulation Predicts a Better Response to Immunosuppressive Treatment in Chronic Immune Thrombocytopenia

Elena Palmisani, Gianluca Dell'Orso, Erica Del Bò, Mariacarla Giarratana, Luca Arcuri, Daniela Guardo, Francesca Bagnasco, Alice Grossi, Marina Lanciotti, Paola Terranova, Carlo Dufour, Francesca Fioredda, Maurizio Miano

Blood (2024) 144 (Supplement 1): 5397.

https://doi.org/10.1182/blood-2024-207549

Published: 2024

Journal Articles

Bone Marrow Impairment in Patients with Adenosine Deaminase 2 Deficiency

Blood (2024) 144 (Supplement 1): 5396.

https://doi.org/10.1182/blood-2024-204733

Published: 2024

Journal Articles

Outcomes of hematopoietic stem cell transplantation in 813 pediatric patients with Fanconi anemia

Blood (2024) 144 (12): 1329–1342.

https://doi.org/10.1182/blood.2023022751

Published: 2024

Includes: Supplemental data

Journal Articles

Heterogeneous Genetic Landscape of Chronic Idiopathic Neutropenia Revealed By Whole Exome Sequencing

Grigorios Tsaknakis, Alice Grossi, Marta Rusmini, Isabella Ceccherini, Paolo Uva, Maurizio Miano, Irene Mavroudi, Erasmia Boutakoglou, Carlo Dufour, Francesca Fioredda, Helen A. Papadaki

Blood (2023) 142 (Supplement 1): 931.

https://doi.org/10.1182/blood-2023-179736

Published: 2023

Journal Articles

Antioxidants As a Novel Treatment to Revert Impaired Angiogenic Potential Driven By Metabolic Alterations Observed in Shwachman-Diamond Syndrome Derived Mesenchymal Stromal Cells

Clarissa Gervasoni, Nadia Bertola, Alice Martina Giussani, Erica Dander, Valentino Bezzerri, Andrea Biondi, Paola Corti, Piero Farruggia, Giovanna Giagnuolo, Giuseppe Menna, Anna Pegoraro, Simone Cesaro, Marco Cipolli, Carlo Dufour, Silvia Ravera, Giovanna D'Amico

Blood (2023) 142 (Supplement 1): 4106.

https://doi.org/10.1182/blood-2023-181932

Published: 2023

Journal Articles

HLA-Haploidentical Stem Cell Transplantation in Children with Inherited Bone Marrow Failure Syndromes: A Retrospective Analysis on Behalf of EBMT Severe Aplastic Anemia Working Party

Blood (2022) 140 (Supplement 1): 5813–5815.

https://doi.org/10.1182/blood-2022-163219

Published: 2022

Journal Articles

Study of Angiogenic Potential and Oxidative Metabolism in Mesenchymal Stromal Cells Derived from Shwachman-Diamond Syndrome Patients

Clarissa Gervasoni, Alice Martina Giussani, Nadia Bertola, Erica Dander, Andrea Biondi, Paola Corti, Piero Farruggia, Giuseppe Menna, Marco Cipolli, Valentino Bezzerri, Anna Pegoraro, Simone Cesaro, Carlo Dufour, Enrico Cappelli, Silvia Ravera, Giovanna D'Amico

Blood (2022) 140 (Supplement 1): 5822–5823.

https://doi.org/10.1182/blood-2022-166100

Published: 2022

Journal Articles

Phenotype and Natural History of ELANE and NON ELANE Severe Congenital Neutropenia in Italy: Data from the National Registry

Blood (2022) 140 (Supplement 1): 8331–8333.

https://doi.org/10.1182/blood-2022-166200

Published: 2022

Journal Articles

Outcome of Haematopoietic Cell Transplantation in 813 Children with Fanconi Anaemia: A Study on Behalf of the EBMT Severe Aplastic Anaemia Working Party and Paediatric Disease Working Party

Blood (2022) 140 (Supplement 1): 657–659.

https://doi.org/10.1182/blood-2022-163140

Published: 2022

Journal Articles

Genetic Screening of Patients with Evans Syndrome: A Single Centre Analysis

Maurizio Miano, Daniela Guardo, Alice Grossi, Elena Palmisani, Francesca Fioredda, Paola Terranova, Michela Lupia, Enrico Cappelli, Gianluca Dell'Orso, Marina Lanciotti, Isabella Ceccherini, Carlo Dufour

Blood (2021) 138 (Supplement 1): 4198.

https://doi.org/10.1182/blood-2021-151450

Published: 2021

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Late onset and long lasting neutropenia & primary immune-dysregulation : Early signals & genetic connections

Rare germline complement gene variants in severe aplastic anemia

The CSMD1 gene is involved in hematopoietic stem cell HSC pruning in patients with acquired immune-mediated aplastic anemia

Allogeneic hematopoietic cell transplantation in dyskeratosis congenita: Short and long- term outcome of 183 consecutive patients transplanted at EBMT centers

Deep immune signature of immune-mediated aplastic anemia patients shows distinct subsets of regulatory T cells associated with response to treatment: Results from the phase 3, randomized EBMT race clinical trial

Eltrombopag Added to Standard Immunosuppressive Treatment Improves Long-Term Outcomes As Front-Line Therapy for Severe Aplastic Anemia: Final 2-Year Analysis of EBMT-Saawp Race Study

Unsupervised Analysis Applied to a Cohort of Likely Acquired Neutropenia: Is It a Unique Entity ?

Dynamics of Oligoclonal Hematopoiesis in Severe Aplastic Anemia Patients Undergoing Immunosuppressive Treatment: Longitudinal Somatic Mutation Analysis from the EBMT Race Trial

Incidence, Time to Diagnosis, and Therapeutic Landscape of Aplastic Anemia: Results from a Large United States Claims Database

Application of Machine Learning in the Diagnostic Work-up of Telomere Biology Disorders

Early Detection of Immune-Dysregulation Predicts a Better Response to Immunosuppressive Treatment in Chronic Immune Thrombocytopenia

Bone Marrow Impairment in Patients with Adenosine Deaminase 2 Deficiency

Outcomes of hematopoietic stem cell transplantation in 813 pediatric patients with Fanconi anemia

Heterogeneous Genetic Landscape of Chronic Idiopathic Neutropenia Revealed By Whole Exome Sequencing

Antioxidants As a Novel Treatment to Revert Impaired Angiogenic Potential Driven By Metabolic Alterations Observed in Shwachman-Diamond Syndrome Derived Mesenchymal Stromal Cells

HLA-Haploidentical Stem Cell Transplantation in Children with Inherited Bone Marrow Failure Syndromes: A Retrospective Analysis on Behalf of EBMT Severe Aplastic Anemia Working Party

Study of Angiogenic Potential and Oxidative Metabolism in Mesenchymal Stromal Cells Derived from Shwachman-Diamond Syndrome Patients

Phenotype and Natural History of ELANE and NON ELANE Severe Congenital Neutropenia in Italy: Data from the National Registry

Outcome of Haematopoietic Cell Transplantation in 813 Children with Fanconi Anaemia: A Study on Behalf of the EBMT Severe Aplastic Anaemia Working Party and Paediatric Disease Working Party

Genetic Screening of Patients with Evans Syndrome: A Single Centre Analysis

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