Heterozygous Mutation in Adenosine Deaminase Gene in a Patient With Severe Lymphopenia Following Corticosteroid Treatment of Autoimmune Hemolytic Anemia

por Tripodi, Serena I., Corti, Paola, Giliani, Silvia, Lanfranchi, Arnalda, Biondi, Andrea, Badolato, Raffaele
Publicado 2018

Selective Laser Melting and Electron Beam Melting of Ti6Al4V for Orthopedic Applications: A Comparative Study on the Applied Building Direction

por Ginestra, Paola, Ferraro, Rosalba Monica, Zohar-Hauber, Keren, Abeni, Andrea, Giliani, Silvia, Ceretti, Elisabetta
Publicado 2020

Aerosol Jet(®) Printing of Poly(3,4-Ethylenedioxythiophene): Poly(Styrenesulfonate) onto Micropatterned Substrates for Neural Cells In Vitro Stimulation

por Seiti, Miriam, Ginestra, Paola Serena, Ferraro, Rosalba Monica, Giliani, Silvia, Vetrano, Rosaria Maria, Ceretti, Elisabetta, Ferraris, Eleonora
Publicado 2022

Treatment response to Janus kinase inhibitor in a child affected by Aicardi‐Goutières syndrome

por Galli, Jessica, Cattalini, Marco, Loi, Erika, Ferraro, Rosalba Monica, Giliani, Silvia, Orcesi, Simona, Pinelli, Lorenzo, Badolato, Raffaele, Fazzi, Elisa
Publicado 2023

Abnormalities of Thymic Stroma may Contribute to Immune Dysregulation in Murine Models of Leaky Severe Combined Immunodeficiency

por Rucci, Francesca, Poliani, Pietro Luigi, Caraffi, Stefano, Paganini, Tiziana, Fontana, Elena, Giliani, Silvia, Alt, Frederick W., Notarangelo, Luigi Daniele
Publicado 2011

A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease

por Filosto, Massimiliano, Lanzi, Gaetana, Nesti, Claudia, Vielmi, Valentina, Marchina, Eleonora, Galvagni, Anna, Giliani, Silvia, Santorelli, Filippo M., Padovani, Alessandro
Publicado 2016

Case Report: A Case of X-Linked Agammaglobulinemia With High Serum IgE Levels and Allergic Rhinitis

por Cinicola, Bianca, Uva, Andrea, Leonardi, Lucia, Moratto, Daniele, Giliani, Silvia, Carsetti, Rita, Ferrari, Simona, Zicari, Anna Maria, Duse, Marzia
Publicado 2020

Toll-like receptor 3 gene polymorphisms and severity of pandemic A/H1N1/2009 influenza in otherwise healthy children

por Esposito, Susanna, Molteni, Claudio Giuseppe, Giliani, Silvia, Mazza, Cinzia, Scala, Alessia, Tagliaferri, Laura, Pelucchi, Claudio, Fossali, Emilio, Plebani, Alessandro, Principi, Nicola
Publicado 2012

Persistent Infection with Rotavirus Vaccine Strain in Severe Combined Immunodeficiency (SCID) Child: Is Rotavirus Vaccination in SCID Children a Janus Face?

por De Francesco, Maria Antonia, Ianiro, Giovanni, Monini, Marina, Vezzoli, Cesare, Schumacher, Richard Fabian, Giliani, Silvia, Lorenzin, Giovanni, Gurrieri, Francesca, Caruso, Arnaldo
Publicado 2019

IFN-α levels in ruxolitinib-treatead Aicardi-Goutières patient during SARS-CoV-2 infection: A case report

por Badolato, Raffaele, Cattalini, Marco, Scaduto, Rosaria, Roversi, Sara, Galli, Jessica, Ferraro, Rosalba Monica, Cortesi, Manuela, Orcesi, Simona, Giliani, Silvia, Fazzi, Elisa
Publicado 2021

Pathological 25 kDa C-Terminal Fragments of TDP-43 Are Present in Lymphoblastoid Cell Lines and Extracellular Vesicles from Patients Affected by Frontotemporal Lobar Degeneration a...

por Cimini, Sara, Bellini, Sonia, Saraceno, Claudia, Benussi, Luisa, Ghidoni, Roberta, Giliani, Silvia Clara, Puoti, Gianfranco, Canafoglia, Laura, Giaccone, Giorgio, Rossi, Giacomina
Publicado 2022

Rituximab Monotherapy Is Effective as First-Line Treatment for Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) in CVID Patients

por Tessarin, Giulio, Baronio, Manuela, Gazzurelli, Luisa, Rossi, Stefano, Chiarini, Marco, Moratto, Daniele, Giliani, Silvia Clara, Bondioni, Maria Pia, Badolato, Raffaele, Lougaris, Vassilios
Publicado 2023

Transient Decrease of Circulating and Tissular Dendritic Cells in Patients With Mycobacterial Disease and With Partial Dominant IFNγR1 Deficiency

por Dotta, Laura, Vairo, Donatella, Giacomelli, Mauro, Moratto, Daniele, Tamassia, Nicola, Vermi, William, Lonardi, Silvia, Casanova, Jean-Laurent, Bustamante, Jacinta, Giliani, Silvia, Badolato, Raffaele
Publicado 2020

Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation

por Cattalini, Marco, Galli, Jessica, Zunica, Fiammetta, Ferraro, Rosalba Monica, Carpanelli, Marialuisa, Orcesi, Simona, Palumbo, Giovanni, Pinelli, Lorenzo, Giliani, Silvia, Fazzi, Elisa, Badolato, Raffaele
Publicado 2021

E-Cadherin Expression and Blunted Interferon Response in Blastic Plasmacytoid Dendritic Cell Neoplasm

por Lorenzi, Luisa, Lonardi, Silvia, Vairo, Donatella, Bernardelli, Andrea, Tomaselli, Michela, Bugatti, Mattia, Licini, Sara, Arisi, Mariachiara, Cerroni, Lorenzo, Tucci, Alessandra, Vermi, William, Giliani, Silvia Clara, Facchetti, Fabio
Publicado 2021

Incontinentia Pigmenti Associated with Aplasia Cutis Congenita in a Newborn Male with Klinefelter Syndrome: Is the Severity of Neurological Involvement Linked to Skin Manifestation...

por Moro, Ruggero, Fabiano, Antonella, Calzavara-Pinton, Piergiacomo, Cardinale, Jacopo, Palumbo, Giovanni, Giliani, Silvia, Lanzi, Gaetana, Antonelli, Francesca, De Simone, Micaela, Martelli, Paola, Fazzi, Elisa, Pinelli, Lorenzo, Gualdi, Giulio
Publicado 2019

X-Linked Lymphoproliferative Disease: 2b4 Molecules Displaying Inhibitory Rather than Activating Function Are Responsible for the Inability of Natural Killer Cells to Kill Epstein-...

por Parolini, Silvia, Bottino, Cristina, Falco, Michela, Augugliaro, Raffaella, Giliani, Silvia, Franceschini, Roberta, Ochs, Hans D., Wolf, Hermann, Bonnefoy, Jean-Yves, Biassoni, Roberto, Moretta, Lorenzo, Notarangelo, Luigi D., Moretta, Alessandro
Publicado 2000

Next Generation Sequencing Analysis in Early Onset Dementia Patients

por Bonvicini, Cristian, Scassellati, Catia, Benussi, Luisa, Di Maria, Emilio, Maj, Carlo, Ciani, Miriam, Fostinelli, Silvia, Mega, Anna, Bocchetta, Martina, Lanzi, Gaetana, Giacopuzzi, Edoardo, Ferraboli, Sergio, Pievani, Michela, Fedi, Virginia, Defanti, Carlo Alberto, Giliani, Silvia, Frisoni, Giovanni Battista, Ghidoni, Roberta, Gennarelli, Massimo
Publicado 2019

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

por Lanzi, Gaetana, Moratto, Daniele, Vairo, Donatella, Masneri, Stefania, Delmonte, Ottavia, Paganini, Tiziana, Parolini, Silvia, Tabellini, Giovanna, Mazza, Cinzia, Savoldi, Gianfranco, Montin, Davide, Martino, Silvana, Tovo, Pierangelo, Pessach, Itai M., Massaad, Michel J., Ramesh, Narayanaswamy, Porta, Fulvio, Plebani, Alessandro, Notarangelo, Luigi D., Geha, Raif S., Giliani, Silvia
Publicado 2012

Expansion of somatically reverted memory CD8(+) T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus

por Palendira, Umaimainthan, Low, Carol, Bell, Andrew I., Ma, Cindy S., Abbott, Rachel J.M., Phan, Tri Giang, Riminton, D. Sean, Choo, Sharon, Smart, Joanne M., Lougaris, Vassilios, Giliani, Silvia, Buckley, Rebecca H., Grimbacher, Bodo, Alvaro, Frank, Klion, Amy D., Nichols, Kim E., Adelstein, Stephen, Rickinson, Alan B., Tangye, Stuart G.
Publicado 2012