Case Report: A Novel Pathogenic Missense Mutation in FAS: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome

por Gaefke, Claudia L., Metts, Jonathan, Imanirad, Donya, Nieves, Daime, Terranova, Paola, Dell'Orso, Gianluca, Gambineri, Eleonora, Miano, Maurizio, Lockey, Richard F., Walter, Jolan Eszter, Westermann-Clark, Emma
Publicado 2021

Hematopoietic stem cell transplantation for inborn errors of immunity: 30-year single-center experience

por Dell’Orso, Gianluca, Bagnasco, Francesca, Giardino, Stefano, Pierri, Filomena, Ferrando, Giulia, Di Martino, Daniela, Micalizzi, Concetta, Guardo, Daniela, Volpi, Stefano, Sabatini, Federica, Miano, Maurizio, Gattorno, Marco, Dufour, Carlo, Faraci, Maura
Publicado 2023

Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis

por Miano, Maurizio, Guardo, Daniela, Grossi, Alice, Palmisani, Elena, Fioredda, Francesca, Terranova, Paola, Cappelli, Enrico, Lupia, Michela, Traverso, Monica, Dell’Orso, Gianluca, Corsolini, Fabio, Beccaria, Andrea, Lanciotti, Marina, Ceccherini, Isabella, Dufour, Carlo
Publicado 2022

Autoimmune Neutropenia and Immune-Dysregulation in a Patient Carrying a TINF2 Variant

por Chianucci, Benedetta, Grossi, Alice, Dell’Orso, Gianluca, Palmisani, Elena, Lanciotti, Marina, Terranova, Paola, Pierri, Filomena, Lupia, Michela, Arcuri, Luca, Laurino, Marica, Ceccherini, Isabella, Beier, Fabian, Dufour, Carlo, Fioredda, Francesca, Miano, Maurizio
Publicado 2022

Case Report: Deficiency of Adenosine Deaminase 2 Presenting With Overlapping Features of Autoimmune Lymphoproliferative Syndrome and Bone Marrow Failure

por Dell’Orso, Gianluca, Grossi, Alice, Penco, Federica, Caorsi, Roberta, Palmisani, Elena, Terranova, Paola, Schena, Francesca, Lupia, Michela, Ricci, Erica, Montalto, Shana, Pierri, Filomena, Ceccherini, Isabella, Fioredda, Francesca, Dufour, Carlo, Gattorno, Marco, Miano, Maurizio
Publicado 2021

Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report

por Del Borrello, Giovanni, Miano, Maurizio, Micalizzi, Concetta, Lupia, Michela, Ceccherini, Isabella, Grossi, Alice, Cavalli, Andrea, Gustincich, Stefano, Rusmini, Marta, Faraci, Maura, Dell’Orso, Gianluca, Ramenghi, Ugo, Mesini, Alessio, Ricci, Erica, Schiavone, Maurizio, Di Iorgi, Natascia, Dufour, Carlo
Publicado 2022

P756: IMPAIRED MITOCHONDRIAL FUNCTION AND MARROW FAILURE IN PATIENTS CARRYING A MUTATION ON SRSF4 GENE

por Miano, Maurizio, Bertola, Nadia, Grossi, Alice, Dell’orso, Gianluca, Regis, Stefano, Fioredda, Francesca, Lupia, Michela, Lanciotti, Marina, Palmisani, Elena, Carla Giarratana, Maria, Arcuri, Luca, Corsolini, Fabio, Rusmini, Marta, Uva, Paolo, Vozzi, Diego, Ceccherini, Isabella, Ravera, Silvia, Cappelli, Enrico, Dufour, Carlo
Publicado 2023

Association of Immune Thrombocytopenia and Celiac Disease in Children: A Retrospective Case Control Study

por Guarina, Angela, Marinoni, Maddalena, Lassandro, Giuseppe, Saracco, Paola, Perrotta, Silverio, Facchini, Elena, Notarangelo, Lucia Dora, Russo, Giovanna, Giordano, Paola, Romano, Francesca, Bertoni, Elisa, Gorio, Chiara, Boscarol, Gianluca, Motta, Milena, Spinelli, Marco, Barone, Angelica, Zecca, Marco, Compagno, Francesca, Ladogana, Saverio, Maggio, Angela, Miano, Maurizio, Dell’Orso, Gianluca, Chiocca, Elena, Fotzi, Ilaria, Petrone, Angela, Tornesello, Assunta, D’Alba, Irene, Salvatore, Silvia, Casale, Maddalena, Puccio, Giuseppe, Ramenghi, Ugo, Farruggia, Piero
Publicado 2021