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Article

The Inborn Errors of Immunity-Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase.

Journal of clinical immunology - 17 Jan 2024

Coppola Emma, Sgrulletti Mayla, Cortesi Manuela, Romano Roberta, Cirillo Emilia, Giardino Giuliana, Dotta Laura, Cancrini Caterina, Bruzzese Dario, Badolato Raffaele, Moschese Viviana, Pignata Claudio

Abstract excerpt

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...

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Identifiers

PMID: 38231401
DOI: 10.1007/s10875-023-01644-y
PMCID: PMC10794402

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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