Approaching hemophagocytic lymphohistiocytosis

por Chinnici, Aurora, Beneforti, Linda, Pegoraro, Francesco, Trambusti, Irene, Tondo, Annalisa, Favre, Claudio, Coniglio, Maria Luisa, Sieni, Elena
Publicado 2023

Familial Hemophagocytic Lymphohistiocytosis: When Rare Diseases Shed Light on Immune System Functioning

por Sieni, Elena, Cetica, Valentina, Hackmann, Yvonne, Coniglio, Maria Luisa, Da Ros, Martina, Ciambotti, Benedetta, Pende, Daniela, Griffiths, Gillian, Aricò, Maurizio
Publicado 2014

Familial Hemophagocytic Lymphohistiocytosis May Present during Adulthood: Clinical and Genetic Features of a Small Series

por Sieni, Elena, Cetica, Valentina, Piccin, Andrea, Gherlinzoni, Filippo, Sasso, Ferdinando Carlo, Rabusin, Marco, Attard, Luciano, Bosi, Alberto, Pende, Daniela, Moretta, Lorenzo, Aricò, Maurizio
Publicado 2012

Early Diagnosis and Monitoring of Neurodegenerative Langerhans Cell Histiocytosis

por Sieni, Elena, Barba, Carmen, Mortilla, Marzia, Savelli, Sara, Grisotto, Laura, Di Giacomo, Gianpiero, Romano, Katiuscia, Fonda, Claudio, Biggeri, Annibale, Guerrini, Renzo, Aricò, Maurizio
Publicado 2015

Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding

por Cetica, Valentina, Hackmann, Yvonne, Grieve, Samantha, Sieni, Elena, Ciambotti, Benedetta, Coniglio, Maria Luisa, Pende, Daniela, Gilmour, Kimberly, Romagnoli, Paolo, Griffiths, Gillian M., Aricò, Maurizio
Publicado 2015

Mutations of familial hemophagocytic lymphohistiocytosis (FHL) related genes and abnormalities of cytotoxicity function tests in patients with macrophage activation syndrome (MAS)...

por Bracaglia, Claudia, Sieni, Elena, Da Ros, Martina, De Fusco, Carmela, Micalizzi, Concetta, Cetica, Valentina, Ciambotti, Benedetta, Coniglio, Maria Luisa, Insalaco, Antonella, De Benedetti, Fabrizio, Aricò, Maurizio
Publicado 2014

S244: OUTCOME OF FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS: REPORT ON 148 PATIENTS FROM THE ITALIAN REGISTRY

por Pegoraro, Francesco, Chinnici, Aurora, Beneforti, Linda, Tantuli, Michele, Trambusti, Irene, De Fusco, Carmen, Micalizzi, Concetta, Todesco, Alessandra, Dell’acqua, Fabiola, Gaspari, Stefania, Coniglio, Maria Luisa, Sieni, Elena
Publicado 2023

Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry

por Cetica, Valentina, Sieni, Elena, Pende, Daniela, Danesino, Cesare, De Fusco, Carmen, Locatelli, Franco, Micalizzi, Concetta, Putti, Maria Caterina, Biondi, Andrea, Fagioli, Franca, Moretta, Lorenzo, Griffiths, Gillian M., Luzzatto, Lucio, Aricò, Maurizio
Publicado 2016

P1058: CHILDHOOD-ONSET ERDHEIM-CHESTER DISEASE IN THE MOLECULAR ERA: CLINICAL PHENOTYPE AND LONG-TERM OUTCOME OF 21 PATIENTS

por Pegoraro, Francesco, Mazzariol, Martina, Trambusti, Irene, Bakhshi, Saamer, Mallick, Saumyaranjan, Dunkel, Ira J., Cor, Van den Bos, Tezol, Ozlem, Shan, Shijun, Ocak, Suheyla, Giordano, Flavio, De Fusco, Carmen, Gaspari, Stefania, Donadieu, Jean, Diamond, Eli, Emile, Jean-Francois, Sieni, Elena, Haroche, Julien, Vaglio, Augusto
Publicado 2023

Hemophagocytic inflammatory syndrome in ADA-SCID: report of two cases and literature review

por Fratini, Elena Sophia, Migliavacca, Maddalena, Barzaghi, Federica, Fossati, Claudia, Giannelli, Stefania, Monti, Ilaria, Casiraghi, Miriam, Ferrua, Francesca, Recupero, Salvatore, Consiglieri, Giulia, Calbi, Valeria, Tucci, Francesca, Gallo, Vera, Bernardo, Maria Ester, Cenciarelli, Sabina, Palmoni, Monica, Moni, Margherita, Galimberti, Luca, Duse, Marzia, Leonardi, Lucia, Sieni, Elena, Soncini, Elena, Porta, Fulvio, Notarangelo, Lucia Dora, De Santis, Raffaella, Ladogana, Saverio, Aiuti, Alessandro, Cicalese, Maria Pia
Publicado 2023

Clinicogenomic associations in childhood Langerhans cell histiocytosis: an international cohort study

por Kemps, Paul G., Zondag, Timo C. E., Arnardóttir, Helga B., Solleveld-Westerink, Nienke, Borst, Jelske, Steenwijk, Eline C., van Egmond, Demi, Swennenhuis, Joost F., Stelloo, Ellen, Trambusti, Irene, Verdijk, Robert M., van Noesel, Carel J. M., Cleven, Arjen H. G., Scheijde-Vermeulen, Marijn A., Koudijs, Marco J., Krsková, Lenka, Hawkins, Cynthia, Egeler, R. Maarten, Brok, Jesper, von Bahr Greenwood, Tatiana, Svojgr, Karel, Beishuizen, Auke, van Laar, Jan A. M., Pötschger, Ulrike, Hutter, Caroline, Sieni, Elena, Minkov, Milen, Abla, Oussama, van Wezel, Tom, van den Bos, Cor, van Halteren, Astrid G. S.
Publicado 2022

Vemurafenib for Refractory Multisystem Langerhans Cell Histiocytosis in Children: An International Observational Study

por Donadieu, Jean, Larabi, Islam Amine, Tardieu, Mathilde, Visser, Johannes, Hutter, Caroline, Sieni, Elena, Kabbara, Nabil, Barkaoui, Mohamed, Miron, Jean, Chalard, François, Milne, Paul, Haroche, Julien, Cohen, Fleur, Hélias-Rodzewicz, Zofia, Simon, Nicolas, Jehanne, Mathilde, Kolenova, Alexandra, Pagnier, Anne, Aladjidi, Nathalie, Schneider, Pascale, Plat, Geneviève, Lutun, Anne, Sonntagbauer, Anne, Lehrnbecher, Thomas, Ferster, Alina, Efremova, Viktoria, Ahlmann, Martina, Blanc, Laurence, Nicholson, James, Lambilliote, Anne, Boudiaf, Houda, Lissat, Andrej, Svojgr, Karel, Bernard, Fanette, Elitzur, Sarah, Golan, Michal, Evseev, Dmitriy, Maschan, Michael, Idbaih, Ahmed, Slater, Olga, Minkov, Milen, Taly, Valerie, Collin, Matthew, Alvarez, Jean-Claude, Emile, Jean-François, Héritier, Sébastien
Publicado 2019