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Journal Articles

Clinical presentation and prognosis in erdheim-chester disease: Analysis of an international cohort of 1044 patients within the ecdga network

Blood (2025) 146 (Supplement 1): 192.

https://doi.org/10.1182/blood-2025-192

Published: 2025

Journal Articles

Impact of additional genetic variants in the course of erdheim-chester disease and their evolution on treatment: A multicentric longitudinal Study of 445 french patients

Félicien Triboulet, Matthias Papo, Fleur Cohen-Aubart, Francesco Pegoraro, Ahmed Idbaih, Damien Roos Weil, Jean-Francois Emile, Zahir Amoura, Pierre Hirsch, Julien Haroche

Blood (2025) 146 (Supplement 1): 4770.

https://doi.org/10.1182/blood-2025-4770

Published: 2025

Journal Articles

Clinical and molecular predictors of interferon-α response in erdheim-chester disease and myeloproliferative neoplasm.

Jerome Razanamahery, Francesco Pegoraro, Dana Bossert, Matthias Papo, Jean-Francois Emile, Francesco Poeta, Bernard Bonnotte, Louis Terriou, Noemie Gensous, Tanguy Le scornet, Etienne Riviere, Ludwig Aho, Adrien Guilloteau, Marc Maynadié, Zahir Amoura, Fleur Cohen-Aubart, Eli Diamond, Augusto Vaglio, Julien Haroche

Blood (2025) 146 (Supplement 1): 3802.

https://doi.org/10.1182/blood-2025-3802

Published: 2025

Journal Articles

Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants

Blood (2025) 145 (25): 2992–3006.

https://doi.org/10.1182/blood.2024027954

Published: 2025

Includes: Supplemental data

Journal Articles

Treatment Strategies and Outcomes of the Rare Histiocytic Disorders: Long-Term Results of the International Rare Histiocytic Disorders Registry (IRHDR)

Blood (2024) 144 (Supplement 1): 3909.

https://doi.org/10.1182/blood-2024-205959

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

Epidemiology and geographic clustering of Erdheim-Chester disease in Italy and France

Blood (2023) 142 (24): 2119–2123.

https://doi.org/10.1182/blood.2023021670

Published: 2023

Includes: Supplemental data

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

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

Long-term follow-up of mTOR inhibition for Erdheim-Chester disease

Francesco Pegoraro, Valerio Maniscalco, Francesco Peyronel, Pieter J. Westenend, Tadek R. Hendriksz, Rosa M. Roperto, Alessandro A. Palumbo, Elena Sieni, Paola Romagnani, Eric F. H. van Bommel, Augusto Vaglio

Blood (2020) 135 (22): 1994–1997.

https://doi.org/10.1182/blood.2019004478

Published: 2020

Includes: Supplemental data

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Clinical presentation and prognosis in erdheim-chester disease: Analysis of an international cohort of 1044 patients within the ecdga network

Impact of additional genetic variants in the course of erdheim-chester disease and their evolution on treatment: A multicentric longitudinal Study of 445 french patients

Clinical and molecular predictors of interferon-α response in erdheim-chester disease and myeloproliferative neoplasm.

Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants

Treatment Strategies and Outcomes of the Rare Histiocytic Disorders: Long-Term Results of the International Rare Histiocytic Disorders Registry (IRHDR)

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

Epidemiology and geographic clustering of Erdheim-Chester disease in Italy and France

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

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

Long-term follow-up of mTOR inhibition for Erdheim-Chester disease

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American Society of Hematology

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