Evidence map›Paper›PMID 42074055›Full record

ArticleInternational journal of molecular sciences2026

Whole Genome Sequencing as First Diagnostic Approach for Inborn Errors of Immunity in Adults: Diagnostic Yield and Clinical Correlations.

Cristina-Loredana Pantea, Mihaela Bataneant, Ciprian Jurcut, Alexis Cochino, Andreea Ioan, Catalin Vasile Munteanu, Cristian G Zimbru, Patricia Urtila, Adela Chirita-Emandi

Abstract read
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In one paragraph

Article in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

9 authors.

Cristina-Loredana PanteaRegional Center of Medical Genetics Timis, Clinical Emergency Hospital for Children "Louis Turcanu", Part of European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders (ERN-ITHACA), 300011 Timisoara, Romania.ORCID 0009-0000-2016-6620
Mihaela Bataneant2nd Pediatric Department, Clinical Emergency Hospital for Children "Louis Turcanu", 300011 Timisoara, Romania.
Ciprian Jurcut2nd Department of Internal Medicine, "Dr. Carol Davila" Central University Emergency Military Hospital, 010825 Bucharest, Romania.
Alexis CochinoDepartment of Pediatrics, "Carol Davila" University of Medicine and Pharmacy, 020022 Bucharest, Romania.
Andreea IoanDepartment of Pediatrics, "Alessandrescu Rusescu" National Institute for Mother and Child Health, 020395 Bucharest, Romania.ORCID 0000-0001-8628-3352
Catalin Vasile MunteanuRegional Center of Medical Genetics Timis, Clinical Emergency Hospital for Children "Louis Turcanu", Part of European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders (ERN-ITHACA), 300011 Timisoara, Romania.ORCID 0009-0007-8880-7501
Cristian G ZimbruDepartment of Automation and Applied Informatics, Politehnica University of Timisoara, 300006 Timisoara, Romania.ORCID 0000-0002-2652-0931
Patricia Urtila2nd Pediatric Department, Clinical Emergency Hospital for Children "Louis Turcanu", 300011 Timisoara, Romania.
Adela Chirita-EmandiRegional Center of Medical Genetics Timis, Clinical Emergency Hospital for Children "Louis Turcanu", Part of European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders (ERN-ITHACA), 300011 Timisoara, Romania.ORCID 0000-0001-7554-4625

Funding

"Victor Babes" University of Medicine and Pharmacy from Timisoara, Romania Postdoctoral Internal competition contract no. 5 POSTDOC/2020, Title: Role of Genome sequencing in diagnostics of primary immunodeficiency and rare cancers (02.2020-02.2022)
6 · The paper itself

Abstract

Inborn errors of immunity (IEIs) encompass a heterogeneous group of more than 550 genetic conditions with variable ages of onset. A significant proportion of IEI arises from genetic variants that may not yet be fully elucidated or recorded in existing genomic databases. Molecular diagnoses are achieved in approximately 15-35% of IEI cases, yet in only 9-20% of individuals with predominant antibody deficiencies, particularly in adult cohorts. We aimed to evaluate whole genome sequencing (WGS) diagnostic yield in adults suspected to have IEI. Clinical assessments of the patients were carried out at tertiary medical institutions in Timisoara and Bucharest, Romania. The study cohort included a consecutive series of 21 adult patients (aged 19-60 years) with IEI phenotype, who underwent genetic analysis, using WGS as the first diagnostic approach. A definitive molecular diagnosis was confirmed in only 9.5% (2/21) of the participants, in

Indexed as

Immunologic Deficiency SyndromesWhole Genome SequencingAdultFemaleHumansMaleMiddle AgedPhenotypeYoung Adultadultsinborn errors of immunitynext-generation sequencingRomaniawhole genome sequencing

Identifiers

PMID42074055
PMCPMC13115587

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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.