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Giuliana Giardino
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Journal Articles

A Gene Therapy Approach for the Treatment of Inborn Errors of Immunity Caused by Mutations in Large Genes

Elisabetta Toriello, Antonio De Rosa, Carmen Rosano, Cosimo Abagnale, Rosa Maritato, Alessia Medugno, Roberta Romano, Emilia Cirillo, Enrico Maria Surace, Claudio Pignata, Giuliana Giardino
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.144.
https://doi.org/10.70962/CIS2025abstract.144
Published: 25 April 2025
View article titled, A Gene Therapy Approach for the Treatment of Inborn Errors of Immunity Caused by Mutations in Large Genes
Journal Articles

Genetic Characterization of a Cohort of Patients with Suspected Inborn Error of Immunity in Follow-Up at a Single Center

Roberta Romano, Laura Grilli, Francesca Cillo, Marika Comegna, Giancarlo Blasio, Elisabetta Toriello, Antonio De Rosa, Emilia Cirillo, Nigro Vincenzo, Giuseppe Castaldo, Claudio Pignata, Giuliana Giardino
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.246.
https://doi.org/10.70962/CIS2025abstract.246
Published: 25 April 2025
View article titled, Genetic Characterization of a Cohort of Patients with Suspected Inborn Error of Immunity in Follow-Up at a Single Center
Journal Articles

Study of Genome-Wide DNA Methylation Profile in a Large Cohort of Patients with 22q11.2 Deletion Syndrome

Francesco Cecere, Antonio De Rosa, Antonio Ammendola, Elisabetta Toriello, Roberta Romano, Emilia Cirillo, Federica Pulvirenti, Bekim Sadikovic, Giuseppe Merla, Claudio Pignata, Giuliana Giardino
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.64.
https://doi.org/10.70962/CIS2025abstract.64
Published: 25 April 2025
View article titled, Study of Genome-Wide DNA Methylation Profile in a Large Cohort of Patients with 22q11.2 Deletion Syndrome
Journal Articles

Distinctive Genome-Wide DNA Methylation Profiling in a Cohort of Patients with Known Pathogenic STAT1 Gain-of-Function Variants

Francesco Cecere, Antonio De Rosa, Antonio Ammendola, Elisabetta Toriello, Roberta Romano, Gianluca Lagnese, Francesco Cinetto, Davide Firinu, Laura Dotta, Maria Carrabba, Raffaele Badolato, Giuseppe Spadaro, Claudio Pignata, Giuseppe Merla, Giuliana Giardino
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.65.
https://doi.org/10.70962/CIS2025abstract.65
Published: 25 April 2025
View article titled, Distinctive Genome-Wide DNA Methylation Profiling in a Cohort of Patients with Known Pathogenic STAT1 Gain-of-Function Variants
Journal Articles

Genome-Wide DNA Methylation Profiling Led to the Identification of a Novel ZNF699 Mutation in a Patient with DEGCAGS Syndrome and Severe B Cell Depletion

Giuliana Giardino, Roberta Romano, Gabriella Maria Squeo, Antonio De Rosa, Antonio Ammendola, Elisabetta Toriello, Giorgia gemma, Mariateresa Cantelli, Emilia Cirillo, Vincenzo Nigro, Claudio Pignata, Giuseppe Merla
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.66.
https://doi.org/10.70962/CIS2025abstract.66
Published: 25 April 2025
View article titled, Genome-Wide DNA Methylation Profiling Led to the Identification of a Novel ZNF699 Mutation in a Patient with DEGCAGS Syndrome and Severe B Cell Depletion
Journal Articles

Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia

Ana García-García, Rebeca Pérez de Diego, Carlos Flores, Darawan Rinchai, Jordi Solé-Violán, Àngela Deyà-Martínez, Blanca García-Solis, José M. Lorenzo-Salazar, Elisa Hernández-Brito, Anna-Lisa Lanz, Leen Moens, Giorgia Bucciol, Mohamed Almuqamam, Joseph B. Domachowske, Elena Colino, Juan Luis Santos-Perez, Francisco M. Marco, Claudio Pignata, Aziz Bousfiha, Stuart E. Turvey, Stefanie Bauer, Filomeen Haerynck, Javier Gonzalo Ocejo-Vinyals, Francisco Lendinez, Seraina Prader, Nora Naumann-Bartsch, Jana Pachlopnik Schmid, Catherine M. Biggs, Kyla Hildebrand, Alexandra Dreesman, Miguel Ángel Cárdenes, Fatima Ailal, Ibtihal Benhsaien, Giuliana Giardino, Agueda Molina-Fuentes, Claudia Fortuny, Swetha Madhavarapu, Daniel H. Conway, Carolina Prando, Laire Schidlowski, María Teresa Martínez de Saavedra Álvarez, Rafael Alfaro, Felipe Rodríguez de Castro, ESID Registry Working Party, COVID Human Genetic Effort, Isabelle Meyts, Fabian Hauck, Anne Puel, Paul Bastard, Bertrand Boisson, Emmanuelle Jouanguy, Laurent Abel, Aurélie Cobat, Qian Zhang, Jean-Laurent Casanova, Laia Alsina, Carlos Rodríguez-Gallego
Journal: Journal of Experimental Medicine
J Exp Med (2023) 220 (5): e20220170.
https://doi.org/10.1084/jem.20220170
Published: 03 March 2023
View article titled, Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia
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Includes: Supplementary data