Toriello, Elisabetta (2024) Precision Medicine in Inborn Errors of Immunity. [Tesi di dottorato]
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| Tipologia del documento: | Tesi di dottorato |
|---|---|
| Lingua: | English |
| Titolo: | Precision Medicine in Inborn Errors of Immunity |
| Autori: | Autore Email Toriello, Elisabetta betty.toriello@gmail.com |
| Data: | 12 Dicembre 2024 |
| Numero di pagine: | 85 |
| Istituzione: | Università degli Studi di Napoli Federico II |
| Dottorato: | Medicina clinica e sperimentale |
| Ciclo di dottorato: | 36 |
| Coordinatore del Corso di dottorato: | nome email Beguinot, Francesco frapagra@hotmail.com |
| Tutor: | nome email Giardino, Giuliana [non definito] |
| Data: | 12 Dicembre 2024 |
| Numero di pagine: | 85 |
| Parole chiave: | Gene therapy; Lentiviral vectors; Ataxia Telangiectasia, miRNA profiling; 22q11.2 Deletion Syndrome; Wiskott-Aldrich Syndrome |
| Settori scientifico-disciplinari del MIUR: | Area 06 - Scienze mediche > MED/38 - Pediatria generale e specialistica |
| Depositato il: | 17 Ott 2025 14:41 |
| Ultima modifica: | 02 Set 2026 08:09 |
| URI: | https://www.fedoa.unina.it/id/eprint/16926 |
Abstract
Inborn Errors of Immunity (IEIs) are rare genetic disorders caused by monogenic mutations affecting immune system function, leading to increased susceptibility to infections, autoimmunity, and cancer. This thesis explores precision medicine approaches for the treatment and diagnosis of IEIs, emphasizing gene therapy and advanced genomic tools. The first section focuses on therapeutic strategies, including hematopoietic stem cell transplantation, biologics, and gene therapy. Special attention is given to designing gene therapy for Ataxia Telangiectasia (A-T) using dual-intein lentiviral vectors to overcome the gene’s large size. The second section highlights precision diagnostic methods, such as next-generation sequencing and RNA profiling, showcasing applications in Wiskott-Aldrich Syndrome and 22q11.2 Deletion Syndrome. This work advances the understanding of personalized therapeutic and diagnostic approaches, aiming to improve clinical outcomes for IEI patients.
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