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

ABSTRACT:

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 diagno

SUBMITTER: Coppola E 

PROVIDER: S-EPMC10794402 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature