Evidence map›Paper›PMID 40226629›Full record

ArticleFrontiers in immunology2025

Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach.

Marija Rozevska, Katrina Daila Neiburga-Vigante, Inga Nartisa, Zane Lucane, Lota Ozola, Livija Bardina, Inta Jaunalksne, Natalija Gerula, Petra Krike, Gita Taurina and 8 more

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Article in Frontiers in immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
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

18 authors.

Marija Rozevska *Institute of Oncology and Molecular Genetics, Riga Stradiņš University, Riga, Latvia.
Katrina Daila Neiburga-Vigante *Riga Stradiņš University, Riga, Latvia.
Inga NartisaInstitute of Oncology and Molecular Genetics, Riga Stradiņš University, Riga, Latvia.
Zane LucaneRiga Stradiņš University, Riga, Latvia.
Lota OzolaChildren's Clinical University Hospital, Riga, Latvia.
Livija BardinaChildren's Clinical University Hospital, Riga, Latvia.
Inta JaunalksnePauls Stradiņš Clinical University Hospital, Center of Clinical Immunology and Allergology, Riga, Latvia.
Natalija GerulaPauls Stradiņš Clinical University Hospital, Center of Clinical Immunology and Allergology, Riga, Latvia.
Petra KrikeThe Faculty of Medicine and Life Sciences, University of Latvia, Riga, Latvia.
Gita TaurinaChildren's Clinical University Hospital, Riga, Latvia.
Ieva Nokalna-SpaleChildren's Clinical University Hospital, Riga, Latvia.
Ieva MiculeChildren's Clinical University Hospital, Riga, Latvia.
Baiba VilneRiga Stradiņš University, Riga, Latvia.
Kai KisandUniversity of Tartu, Tartu, Estonia.
Sander PajusaluUniversity of Tartu, Tartu, Estonia.
Linda GailiteInstitute of Oncology and Molecular Genetics, Riga Stradiņš University, Riga, Latvia.
Dmitrijs Rots *Institute of Oncology and Molecular Genetics, Riga Stradiņš University, Riga, Latvia.
Natalja Kurjane *Institute of Oncology and Molecular Genetics, Riga Stradiņš University, Riga, Latvia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Inborn errors of immunity (IEI), a diverse group of rare inborn disorders involving over 500 genes, pose diagnostic challenges despite next-generation sequencing advancements. Accurate molecular diagnosis is crucial for personalized treatment. This study aimed to assess the complementary role of genome and transcriptome sequencing in improving diagnostic yield for inborn errors of immunity. A cohort of 37 suspected IEI cases mainly consisting of predominantly primarily antibody deficiency (PAD) (27/37) underwent genome and transcriptome sequencing. We validated transcriptome sequencing analysis using positive controls and showed limitations of current methods. Among the 37 IEI cases, genetic etiology was identified in 14% (5/37). Genome and transcriptome sequencing prompted diagnostic changes in three initially diagnosed common variable immunodeficiency (CVID)/PAD cases, including showing RAS-associated autoimmune leukoproliferative disorder presenting as a novel CVID mimic disorder. The spectrum of identified pathogenic variants included

Indexed as

Genome, HumanPrimary Immunodeficiency DiseasesTranscriptomeAdolescentChildChild, PreschoolExome SequencingFemaleGene Expression ProfilingGenomicsHigh-Throughput Nucleotide SequencingHumansInfantMaleMultiomicscomplex structural variantdiagnostic yieldgenome sequencinginborn errors of immunityphenotypic correlationpredominantly antibody deficiencytranscriptome sequencingvariant of uncertain significance

Identifiers

PMID40226629
PMCPMC11986850

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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.