The Inborn Errors of Immunity-Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network : Results from the Validation Phase
© 2024. The Author(s)..
PURPOSE: Inborn errors of immunity (IEI) represent a heterogeneous group of rare genetically determined diseases. In some cases, patients present with complex or atypical phenotypes, not fulfilling the accepted diagnostic criteria for IEI and, thus, at high risk of misdiagnosis or diagnostic delay. This study aimed to validate a platform that, through the opinion of immunologist experts, improves the diagnostic process and the level of care of patients with atypical/complex IEI.
METHODS: Here, we describe the functioning of the IEI-Virtual Consultation System (VCS), an innovative platform created by the Italian Immunodeficiency Network (IPINet).
RESULTS: In the validation phase, from January 2020 to June 2021, 68 cases were entered on the IEI-VCS platform. A final diagnosis was achieved in 35/68 cases (51%, 95% CI 38.7 to 64.2). In 22 out of 35 solved cases, the diagnosis was confirmed by genetic analysis. In 3/35 cases, a diagnosis of secondary immunodeficiency was made. In the remaining 10 cases, an unequivocal clinical and immunological diagnosis was obtained, even though not substantiated by genetic analysis.
CONCLUSION: From our preliminary study, the VCS represents an innovative and useful system to improve the diagnostic process of patients with complex unsolved IEI disorders, with benefits both in terms of reduction of time of diagnosis and access to the required therapies. These results may help the functioning of other international platforms for the management of complex cases.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:44 |
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| Enthalten in: |
Journal of clinical immunology - 44(2024), 2 vom: 17. Jan., Seite 47 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Coppola, Emma [VerfasserIn] |
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| Links: |
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| Themen: |
Complex IEIs |
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| Anmerkungen: |
Date Completed 18.01.2024 Date Revised 21.02.2024 published: Electronic Citation Status MEDLINE |
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| doi: |
10.1007/s10875-023-01644-y |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM367219603 |
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| 100 | 1 | |a Coppola, Emma |e verfasserin |4 aut | |
| 245 | 1 | 4 | |a The Inborn Errors of Immunity-Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network |b Results from the Validation Phase |
| 264 | 1 | |c 2024 | |
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| 500 | |a Date Completed 18.01.2024 | ||
| 500 | |a Date Revised 21.02.2024 | ||
| 500 | |a published: Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2024. The Author(s). | ||
| 520 | |a PURPOSE: Inborn errors of immunity (IEI) represent a heterogeneous group of rare genetically determined diseases. In some cases, patients present with complex or atypical phenotypes, not fulfilling the accepted diagnostic criteria for IEI and, thus, at high risk of misdiagnosis or diagnostic delay. This study aimed to validate a platform that, through the opinion of immunologist experts, improves the diagnostic process and the level of care of patients with atypical/complex IEI | ||
| 520 | |a METHODS: Here, we describe the functioning of the IEI-Virtual Consultation System (VCS), an innovative platform created by the Italian Immunodeficiency Network (IPINet) | ||
| 520 | |a RESULTS: In the validation phase, from January 2020 to June 2021, 68 cases were entered on the IEI-VCS platform. A final diagnosis was achieved in 35/68 cases (51%, 95% CI 38.7 to 64.2). In 22 out of 35 solved cases, the diagnosis was confirmed by genetic analysis. In 3/35 cases, a diagnosis of secondary immunodeficiency was made. In the remaining 10 cases, an unequivocal clinical and immunological diagnosis was obtained, even though not substantiated by genetic analysis | ||
| 520 | |a CONCLUSION: From our preliminary study, the VCS represents an innovative and useful system to improve the diagnostic process of patients with complex unsolved IEI disorders, with benefits both in terms of reduction of time of diagnosis and access to the required therapies. These results may help the functioning of other international platforms for the management of complex cases | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Inborn errors of immunity | |
| 650 | 4 | |a Virtual Consultation System, IPINet, web-based platform | |
| 650 | 4 | |a complex IEIs | |
| 650 | 4 | |a undiagnosed IEIs | |
| 700 | 1 | |a Sgrulletti, Mayla |e verfasserin |4 aut | |
| 700 | 1 | |a Cortesi, Manuela |e verfasserin |4 aut | |
| 700 | 1 | |a Romano, Roberta |e verfasserin |4 aut | |
| 700 | 1 | |a Cirillo, Emilia |e verfasserin |4 aut | |
| 700 | 1 | |a Giardino, Giuliana |e verfasserin |4 aut | |
| 700 | 1 | |a Dotta, Laura |e verfasserin |4 aut | |
| 700 | 1 | |a Cancrini, Caterina |e verfasserin |4 aut | |
| 700 | 1 | |a Bruzzese, Dario |e verfasserin |4 aut | |
| 700 | 1 | |a Badolato, Raffaele |e verfasserin |4 aut | |
| 700 | 1 | |a Moschese, Viviana |e verfasserin |4 aut | |
| 700 | 1 | |a Pignata, Claudio |e verfasserin |4 aut | |
| 700 | 0 | |a in collaboration with IEI-VCS Task Force |e verfasserin |4 aut | |
| 700 | 1 | |a Alessandro, Aiuti |e investigator |4 oth | |
| 700 | 1 | |a Amodio, Donato |e investigator |4 oth | |
| 700 | 1 | |a Azzari, Chiara |e investigator |4 oth | |
| 700 | 1 | |a Canessa, Clementina |e investigator |4 oth | |
| 700 | 1 | |a Caorsi, Roberta |e investigator |4 oth | |
| 700 | 1 | |a Castagnoli, Riccardo |e investigator |4 oth | |
| 700 | 1 | |a Cicalese, Maria Pia |e investigator |4 oth | |
| 700 | 1 | |a Conti, Francesca |e investigator |4 oth | |
| 700 | 1 | |a Consolini, Rita |e investigator |4 oth | |
| 700 | 1 | |a Dellepiane, Rosa Maria |e investigator |4 oth | |
| 700 | 1 | |a Finocchi, Andrea |e investigator |4 oth | |
| 700 | 1 | |a Gallo, Vera |e investigator |4 oth | |
| 700 | 1 | |a Gattorno, Marco |e investigator |4 oth | |
| 700 | 1 | |a Graziani, Simona |e investigator |4 oth | |
| 700 | 1 | |a Lippi, Francesca |e investigator |4 oth | |
| 700 | 1 | |a Lougaris, Vassilios |e investigator |4 oth | |
| 700 | 1 | |a Martire, Baldassarre |e investigator |4 oth | |
| 700 | 1 | |a Matucci, Andrea |e investigator |4 oth | |
| 700 | 1 | |a Marzollo, Antonio |e investigator |4 oth | |
| 700 | 1 | |a Milito, Cinzia |e investigator |4 oth | |
| 700 | 1 | |a Montin, Davide |e investigator |4 oth | |
| 700 | 1 | |a Ottaviano, Giorgio |e investigator |4 oth | |
| 700 | 1 | |a Palma, Paolo |e investigator |4 oth | |
| 700 | 1 | |a Patuzzo, Giuseppe |e investigator |4 oth | |
| 700 | 1 | |a Pession, Andrea |e investigator |4 oth | |
| 700 | 1 | |a Pietrogrande, Maria Cristina |e investigator |4 oth | |
| 700 | 1 | |a Plebani, Alessandro |e investigator |4 oth | |
| 700 | 1 | |a Quinti, Isabella |e investigator |4 oth | |
| 700 | 1 | |a Ricci, Silvia |e investigator |4 oth | |
| 700 | 1 | |a Saettini, Francesco |e investigator |4 oth | |
| 700 | 1 | |a Soresina, Annarosa |e investigator |4 oth | |
| 700 | 1 | |a Spadaro, Giuseppe |e investigator |4 oth | |
| 700 | 1 | |a Tommasini, Alberto |e investigator |4 oth | |
| 700 | 1 | |a Trizzino, Nino |e investigator |4 oth | |
| 700 | 1 | |a Volpi, Stefano |e investigator |4 oth | |
| 700 | 1 | |a Vultaggio, Alessandra |e investigator |4 oth | |
| 700 | 1 | |a Zunica, Fiammetta |e investigator |4 oth | |
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