The Inborn Errors of Immunity—Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase
Rattachement africain : it. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
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.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- The Inborn Errors of Immunity—Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase
- Date Crossref
- 17/01/2024
- Éditeur
- Springer Science and Business Media LLC
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Federico II University Hospital Department of Translational Medical Sciences pays non établi dans la noticeÉtablissement de santé
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University of Rome Tor Vergata Molecular Medicine and Applied Biotechnology pays non établi dans la noticeUniversité ou école supérieure
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Policlinico Tor Vergata pays non établi dans la noticeÉtablissement de santé
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University of Brescia Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli pays non établi dans la noticeUniversité ou école supérieure
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Bambino Gesù Children's Hospital pays non établi dans la noticeÉtablissement de santé
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Istituti di Ricovero e Cura a Carattere Scientifico pays non établi dans la noticeÉtablissement de santé
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University of Tor Vergata Policlinico Tor Vergata pays non établi dans la noticeUniversité ou école supérieure
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Research Unit of Primary Immunodeficiency pays non établi dans la noticeStructure de recherche
Department of Translational Medical Sciences — Federico II University Hospital, Molecular Medicine and Applied Biotechnology — University of Rome Tor Vergata et Policlinico Tor Vergata, avec 5 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.