A Novel Germline Mutation of ADA2 Gene in Two “Discordant” Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related Phenotype

por Vai, Silvia, Marin, Erika, Cosso, Roberta, Saettini, Francesco, Bonanomi, Sonia, Cattoni, Alessandro, Chiodini, Iacopo, Persani, Luca, Falchetti, Alberto
Publicado 2021

Effect of Vagus Nerve Stimulation on Blood Inflammatory Markers in Children with Drug-Resistant Epilepsy: A Pilot Study

por Baro, Valentina, Bonavina, Maria Vittoria, Saettini, Francesco, D’Amico, Giovanna, Trezza, Andrea, Denaro, Luca, Grioni, Daniele, Landi, Andrea
Publicado 2022

Is there a role for high dose chemotherapy and blood stem cell rescue in childhood hepatoblastoma presenting with lung metastases? A case report and literature review

por Provenzi, Massimo, Saettini, Francesco, Conter, Valentino, Giraldi, Eugenia, Foglia, Carlo, Cavalleri, Laura, Colledan, Michele, D’Antiga, Lorenzo, Perilongo, Giorgio, Da Dalt, Liviana
Publicado 2013

Finding balance between mature and immature neutrophils: The effects of empagliflozin in GSD‐Ib

por Guerra, Fabiola, Gasperini, Serena, Bonanomi, Sonia, Crescitelli, Viola, Pretese, Roberta, Da Dalt, Lorenzo, Norata, Giuseppe Danilo, Balzarini, Marta, Biondi, Andrea, Baragetti, Andrea, Saettini, Francesco
Publicado 2023

Symptomatic fever management among 3 different groups of pediatricians in Northern Lombardy (Italy): results of an explorative cross-sectional survey

por Bettinelli, Alberto, Provero, Maria Cristina, Cogliati, Felice, Villella, Anna, Marinoni, Maddalena, Saettini, Francesco, Bianchetti, Mario Giovanni, Nespoli, Luigi, Galluzzo, Cino, Lava, Sebastiano Antonio Giovanni
Publicado 2013

Pediatric immune myelofibrosis (PedIMF) as a novel and distinct clinical pathological entity

por Guerra, Fabiola, L’Imperio, Vincenzo, Bonanomi, Sonia, Spinelli, Marco, Coliva, Tiziana Angela, Dell’Acqua, Fabiola, Ferrari, Giulia Maria, Corti, Paola, Balduzzi, Adriana, Biondi, Andrea, Pagni, Fabio, Saettini, Francesco
Publicado 2022

Abnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome

por Saettini, Francesco, Coliva, Tiziana Angela, Vendemini, Francesca, Galbiati, Marta, Bugarin, Cristina, Masetti, Riccardo, Moratto, Daniele, Chiarini, Marco, Guerra, Fabiola, Iascone, Maria, Badolato, Raffaele, Cazzaniga, Giovanni, Niemeyer, Charlotte, Flotho, Christian, Biondi, Andrea
Publicado 2022

Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis

por Saettini, Francesco, Fazio, Grazia, Moratto, Daniele, Galbiati, Marta, Zucchini, Nicola, Ippolito, Davide, Dinelli, Marco Emilio, Imberti, Luisa, Mauri, Mario, Melzi, Maria Luisa, Bonanomi, Sonia, Gerussi, Alessio, Pinelli, Marinella, Barisani, Chiara, Bugarin, Cristina, Chiarini, Marco, Giacomelli, Mauro, Piazza, Rocco, Cazzaniga, Giovanni, Invernizzi, Pietro, Giliani, Silvia Clara, Badolato, Raffaele, Biondi, Andrea
Publicado 2021

Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients

por Tessarin, Giulio, Rossi, Stefano, Baronio, Manuela, Gazzurelli, Luisa, Colpani, Michael, Benvenuto, Alessio, Zunica, Fiammetta, Cardinale, Fabio, Martire, Baldassarre, Brescia, Letizia, Costagliola, Giorgio, Luti, Laura, Casazza, Gabriella, Menconi, Maria Cristina, Saettini, Francesco, Palumbo, Laura, Girelli, Maria Federica, Badolato, Raffaele, Lanzi, Gaetana, Chiarini, Marco, Moratto, Daniele, Meini, Antonella, Giliani, Silvia, Bondioni, Maria Pia, Plebani, Alessandro, Lougaris, Vassilios
Publicado 2020

Case Report: Consistent disease manifestations with a staggered time course in two identical twins affected by adenosine deaminase 2 deficiency

por Barzaghi, Federica, Cicalese, Maria Pia, Zoccolillo, Matteo, Brigida, Immacolata, Barcella, Matteo, Merelli, Ivan, Sartirana, Claudia, Zanussi, Monica, Calbi, Valeria, Bernardo, Maria Ester, Tucci, Francesca, Migliavacca, Maddalena, Giglio, Fabio, Doglio, Matteo, Canarutto, Daniele, Ferrua, Francesca, Consiglieri, Giulia, Prunotto, Giulia, Saettini, Francesco, Bonanomi, Sonia, Rovere-Querini, Patrizia, Di Colo, Giulia, Jofra, Tatiana, Fousteri, Georgia, Penco, Federica, Gattorno, Marco, Hershfield, Michael S., Bongiovanni, Lucia, Ponzoni, Maurilio, Marktel, Sarah, Milani, Raffaella, Peccatori, Jacopo, Ciceri, Fabio, Mortellaro, Alessandra, Aiuti, Alessandro
Publicado 2022

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

por Verdura, Edgard, Rodríguez-Palmero, Agustí, Vélez-Santamaria, Valentina, Planas-Serra, Laura, de la Calle, Irene, Raspall-Chaure, Miquel, Roubertie, Agathe, Benkirane, Mehdi, Saettini, Francesco, Pavinato, Lisa, Mandrile, Giorgia, O’Leary, Melanie, O’Heir, Emily, Barredo, Estibaliz, Chacón, Almudena, Michaud, Vincent, Goizet, Cyril, Ruiz, Montserrat, Schlüter, Agatha, Rouvet, Isabelle, Sala-Coromina, Julia, Fossati, Chiara, Iascone, Maria, Canonico, Francesco, Marcé-Grau, Anna, de Souza, Precilla, Adams, David R, Casasnovas, Carlos, Rehm, Heidi L, Mefford, Heather C, González Gutierrez-Solana, Luis, Brusco, Alfredo, Koenig, Michel, Macaya, Alfons, Pujol, Aurora
Publicado 2021

Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity

por Haimel, Matthias, Pazmandi, Julia, Heredia, Raú Jiménez, Dmytrus, Jasmin, Bal, Sevgi Köstel, Zoghi, Samaneh, van Daele, Paul, Briggs, Tracy A., Wouters, Carine, Bader-Meunier, Brigitte, Aeschlimann, Florence A., Caorsi, Roberta, Eleftheriou, Despina, Hoppenreijs, Esther, Salzer, Elisabeth, Bakhtiar, Shahrzad, Derfalvi, Beata, Saettini, Francesco, Kusters, Maaike A. A., Elfeky, Reem, Trück, Johannes, Rivière, Jacques G., van der Burg, Mirjam, Gattorno, Marco, Seidel, Markus G., Burns, Siobhan, Warnatz, Klaus, Hauck, Fabian, Brogan, Paul, Gilmour, Kimberly C., Schuetz, Catharina, Simon, Anna, Bock, Christoph, Hambleton, Sophie, de Vries, Esther, Robinson, Peter N., van Gijn, Marielle, Boztug, Kaan
Publicado 2022