Evidence map›Paper›PMID 42618213›Full record

ReviewRMD open2026

How multi-omic technologies can help define paediatric undifferentiated systemic autoinflammatory diseases: the experience of the European PerSAIDs consortium.

Camilla Speziani, Serena Palmeri, Paolo Uva, Simona Gattulli, Giacomo Cavalca, Andrea Petretto, Federica Penco, Yulia Rodina, Giada Recchi, Banu Balci-Peynircioglu and 11 more

Abstract readReview
In one paragraph

Review in RMD open, 2026. 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
–field-weighted citation impact
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.

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

21 authors.

Camilla SpezianiUOSD Aggregation Area of Research Laboratories, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Serena PalmeriDipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze MaternoInfantili, University of Genoa, Genoa, Italy.ORCID http://orcid.org/0000-0001-7670-6825
Paolo UvaClinical Bioinformatics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Simona GattulliClinical Bioinformatics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Giacomo CavalcaClinical Bioinformatics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Andrea PetrettoCore Facility of Omics Sciences, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Federica PencoRheumatology and Autoinflammatory Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Yulia RodinaData Science and Computation Facility, Fondazione Istituto Italiano di Tecnologia, Genoa, Italy.
Giada RecchiRheumatology and Autoinflammatory Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.ORCID http://orcid.org/0009-0009-1772-9504
Banu Balci-PeynirciogluDepartment of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Ezgi Deniz BatuDepartment of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.ORCID http://orcid.org/0000-0003-1065-2363
Sabrina FuehnerDepartment of Pediatric Rheumatology and Immunology, University Hospital Muenster, Munster, Germany.
Enrique OzcarizCompetence Unit Molecular Diagnostics, Center for Health & Bioresources, Austrian Institute of Technology GmbH, Vienna, Austria.
Federica RizziBio4dreams spa, Milano, Italy.
Sergio DecherchiData Science and Computation Facility, Fondazione Istituto Italiano di Tecnologia, Genoa, Italy.
Klemens VierlingerCompetence Unit Molecular Diagnostics, Center for Health & Bioresources, Austrian Institute of Technology GmbH, Vienna, Austria.
Marco GattornoRheumatology and Autoinflammatory Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.ORCID http://orcid.org/0000-0003-0704-1916
Seza OzenDepartment of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.ORCID http://orcid.org/0000-0003-2883-7868
Dirk FoellDepartment of Pediatric Rheumatology and Immunology, University Hospital Muenster, Munster, Germany.
Juan Ignacio ArosteguiDepartment of Immunology, Hospital Clínic, Barcelona, Spain.
Isabella CeccheriniUOSD Aggregation Area of Research Laboratories, IRCCS Istituto Giannina Gaslini, Genoa, Italy isabellaceccherini@gaslini.org.ORCID http://orcid.org/0000-0001-8732-1955

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Systemic AutoInflammatory Diseases (SAIDs) are rare conditions characterised by impaired control of inflammatory and innate immune responses. Precision medicine is already well established for monogenic SAIDs, while personalised approaches remain elusive for those conditions with not identified genetic cause, collectively named undifferentiated SAIDs (uSAIDs).The multi-omic approach integrates findings from various 'omics'" technologies (eg, genomics, transcriptomics, proteomics, epigenomics, immunomics), thus representing a potential way of identifying disease-specific biomarkers or complex molecular patterns, offering significant improvements in diagnosis and personalised therapies. At present, significant challenges remain in patient's sample collection, methodological standardisation and the development of robust bioinformatics tools before the findings can be translated into clinical practice. We provide examples of successful applications of multi-omic analyses to immune-mediated disorders, address the challenges and opportunities associated with multi-omics in paediatric uSAIDs and introduce the ERA PerMed project 'PerSAIDs', which combines multi-omic research with artificial intelligence-based decision support solutions to further advance the diagnosis and management of SAIDs.

Indexed as

Hereditary Autoinflammatory DiseasesMultiomicsBiomarkersChildComputational BiologyEpigenomicsEuropeGenomicsHumansPrecision MedicineProteomicsBiomarkersBiological TherapyBiomarkersHereditary Autoinflammatory Diseases

Identifiers

PMID42618213
PMCPMC13504500

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.