Evidence map›Paper›PMID 38231401›Full record

ArticleJournal of clinical immunology2024

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

Emma Coppola, Mayla Sgrulletti, Manuela Cortesi, Roberta Romano, Emilia Cirillo, Giuliana Giardino, Laura Dotta, Caterina Cancrini, Dario Bruzzese, Raffaele Badolato and 3 more

Open access · hybridAbstract read
In one paragraph

Article in Journal of clinical immunology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.5field-weighted citation impact, top 39% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 2 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors at 5 institutions in 1 country.

Emma Coppola *Section of Pediatrics, Department of Translational Medical Sciences, Federico II University, Via S. Pansini, 5-80131, Naples, Italy.
Mayla Sgrulletti *Pediatric Immunopathology and Allergology Unit, Policlinico Tor Vergata, University of Tor Vergata, Rome, Italy.
Manuela CortesiPediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, ASST- Spedali Civili of Brescia, University of Brescia, Brescia, Italy.
Roberta RomanoSection of Pediatrics, Department of Translational Medical Sciences, Federico II University, Via S. Pansini, 5-80131, Naples, Italy.
Emilia CirilloSection of Pediatrics, Department of Translational Medical Sciences, Federico II University, Via S. Pansini, 5-80131, Naples, Italy.
Giuliana GiardinoSection of Pediatrics, Department of Translational Medical Sciences, Federico II University, Via S. Pansini, 5-80131, Naples, Italy.
Laura DottaPediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, ASST- Spedali Civili of Brescia, University of Brescia, Brescia, Italy.
Caterina CancriniResearch Unit of Primary Immunodeficiency, IRCCS Bambin Gesù Children Hospital, Rome, Italy.
Dario BruzzeseDepartment of Public Health, Federico II University, Naples, Italy.
Raffaele Badolato *Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, ASST- Spedali Civili of Brescia, University of Brescia, Brescia, Italy.
Viviana Moschese *Pediatric Immunopathology and Allergology Unit, Policlinico Tor Vergata, University of Tor Vergata, Rome, Italy.
Claudio Pignata *Section of Pediatrics, Department of Translational Medical Sciences, Federico II University, Via S. Pansini, 5-80131, Naples, Italy. pignata@unina.it.ORCID 0000-0003-1568-9843
IEI-VCS Task Force
Federico II University Hospital · ITUniversity of Brescia · ITBambino Gesù Children's Hospital · ITPoliclinico Tor Vergata · ITUniversity of Rome Tor Vergata · IT

Funding

Bando Ricerca Finalizzata Ministero della Salute 2019 RF-2019-12369979European Union PNRR - MR1 - 2022 - 12376594
6 · The paper itself

Abstract

purposeInborn 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.

methodsHere, we describe the functioning of the IEI-Virtual Consultation System (VCS), an innovative platform created by the Italian Immunodeficiency Network (IPINet).

resultsIn 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.

conclusionFrom 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.

Indexed as

Delayed DiagnosisRare DiseasesHumansItalyPhenotypeReferral and Consultationcomplex IEIsInborn errors of immunityundiagnosed IEIsVirtual Consultation System, IPINet, web-based platform

Identifiers

PMID38231401
PMCPMC10794402
OpenAlexW4390949946

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.