: Erdheim-Chester Disease (ECD) is exceptionally rare in childhood. Among 21 children with ECD, disease phenotype and mutational profile were similar to those observed in adults, although the frequency of some clinical manifestations differed. Targeted therapies were also effective in children.
Childhood-onset Erdheim-Chester Disease in the molecular era: clinical phenotype and long-term outcome of 21 patients / Pegoraro, Francesco; Mazzariol, Martina; Trambusti, Irene; Bakhshi, Sameer; Mallick, Saumyaranjan; Dunkel, Ira J; van den Bos, Cor; Tezol, Ozlem; Shan, Shijun; Ocak, Suheyla; Giordano, Flavio; De Fusco, Carmela; Gaspari, Stefania; Buccoliero, Annamaria; Coniglio, Maria Luisa; Buti, Elisa; Romagnani, Paola; Picarsic, Jennifer; Donadieu, Jean; Diamond, Eli L; Emile, Jean-François; Sieni, Elena; Haroche, Julien; Vaglio, Augusto. - In: BLOOD. - ISSN 0006-4971. - ELETTRONICO. - (2023), pp. 0-0. [10.1182/blood.2023020569]
Childhood-onset Erdheim-Chester Disease in the molecular era: clinical phenotype and long-term outcome of 21 patients
Pegoraro, Francesco;Trambusti, Irene;Giordano, Flavio;Gaspari, Stefania;Coniglio, Maria Luisa;Buti, Elisa;Romagnani, Paola;Sieni, Elena;Vaglio, Augusto
2023
Abstract
: Erdheim-Chester Disease (ECD) is exceptionally rare in childhood. Among 21 children with ECD, disease phenotype and mutational profile were similar to those observed in adults, although the frequency of some clinical manifestations differed. Targeted therapies were also effective in children.
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