Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients

by Alice Grossi, Maurizio Miano, Marina Lanciotti, Francesca Fioredda, Daniela Guardo, Elena Palmisani, Paola Terranova, Giuseppe Santamaria, Francesco Caroli, Roberta Caorsi, Stefano Volpi, Marco Gattorno, Carlo Dufour, Isabella Ceccherini
Published 2021-08-01

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

by Maurizio Miano, Daniela Guardo, Alice Grossi, Elena Palmisani, Francesca Fioredda, Paola Terranova, Enrico Cappelli, Michela Lupia, Monica Traverso, Gianluca Dell’Orso, Fabio Corsolini, Andrea Beccaria, Marina Lanciotti, Isabella Ceccherini, Carlo Dufour
Published 2022-05-01

Autoimmune Neutropenia and Immune-Dysregulation in a Patient Carrying a <i>TINF2</i> Variant

by Benedetta Chianucci, Alice Grossi, Gianluca Dell'Orso, Elena Palmisani, Marina Lanciotti, Paola Terranova, Filomena Pierri, Michela Lupia, Luca Arcuri, Marica Laurino, Isabella Ceccherini, Fabian Beier, Carlo Dufour, Francesca Fioredda, Maurizio Miano
Published 2022-11-01

PB2052: THE HEMATOLOGICAL SIDE OF TNFRSF13B/TACI: A MONOCENTRIC EXPERIENCE

by Andrea Beccaria, Marina Lanciotti, Maria Carla Giarratana, Elena Palmisani, Isabella Ceccherini, Alice Grossi, Roberta Caorsi, Marco Gattorno, Paola Terranova, Michela Lupia, Domenico Coviello, Massimo Maffei, Sabrina Zanardi, Maurizio Miano, Carlo Dufour, Francesca Fioredda
Published 2023-08-01

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

by Gianluca Dell’Orso, Alice Grossi, Federica Penco, Roberta Caorsi, Elena Palmisani, Paola Terranova, Francesca Schena, Michela Lupia, Erica Ricci, Shana Montalto, Filomena Pierri, Isabella Ceccherini, Francesca Fioredda, Carlo Dufour, Marco Gattorno, Maurizio Miano
Published 2021-10-01

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

by Claudia L. Gaefke, Jonathan Metts, Donya Imanirad, Daime Nieves, Paola Terranova, Gianluca Dell'Orso, Eleonora Gambineri, Maurizio Miano, Richard F. Lockey, Jolan Eszter Walter, Jolan Eszter Walter, Emma Westermann-Clark, Emma Westermann-Clark
Published 2021-03-01

Case Report: Atypical Manifestations Associated With FOXP3 Mutations. The “Fil Rouge” of Treg Between IPEX Features and Other Clinical Entities?

by Micaela Gentile, Micaela Gentile, Maurizio Miano, Paola Terranova, Stefano Giardino, Maura Faraci, Filomena Pierri, Enrico Drago, Daniela Verzola, Gianmarco Ghiggeri, Enrico Verrina, Andrea Angeletti, Barbara Cafferata, Alice Grossi, Isabella Ceccherini, Gianluca Caridi, Francesca Lugani, Lorenzo Nescis, Enrico Fiaccadori, Enrico Fiaccadori, Luca Lanino, Daniela Fenoglio, Daniela Fenoglio, Edoardo La Porta, Edoardo La Porta
Published 2022-04-01

Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?

by Elena Palmisani, Maurizio Miano, Alice Grossi, Marina Lanciotti, Michela Lupia, Paola Terranova, Isabella Ceccherini, Eugenia Montanari, Michaela Calvillo, Filomena Pierri, Concetta Micalizzi, Rosario Maggiore, Daniela Guardo, Sabrina Zanardi, Elena Facchini, Angela Maggio, Elena Mastrodicasa, Paola Corti, Giovanna Russo, Marta Pillon, Piero Farruggia, Simone Cesaro, Angelica Barone, Francesca Tosetti, Ugo Ramenghi, Nicoletta Crescenzio, Jack Bleesing, Carlo Dufour, Francesca Fioredda
Published 2023-03-01