Evidence map›Paper›PMID 42169991›Full record

ReviewJournal of human immunity2026

From variants to answers: The evolution of genetic counseling in IEI.

Blanca García-Solís, Rebeca Pérez de Diego, Silvia Sánchez-Ramón

Abstract readReview
In one paragraph

Review in Journal of human immunity, 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. 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

3 authors.

Blanca García-SolísDepartment of Clinical Immunology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain.ORCID https://orcid.org/0000-0002-3718-2560
Rebeca Pérez de DiegoInterdepartmental Group of Immunodeficiencies, Madrid, Spain.ORCID https://orcid.org/0000-0001-8426-8765
Silvia Sánchez-RamónDepartment of Clinical Immunology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain.ORCID https://orcid.org/0000-0001-9585-6167

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Inborn errors of immunity (IEIs) comprise >500 rare congenital disorders of the immune system, characterized by susceptibility to infection and immune dysregulation. Genetic testing advances have improved the comprehension of their molecular mechanisms and informed personalized therapeutic strategies. Nevertheless, the interpretation of variants and their clinical relevance remain challenging. Together with the technological limitations of next-generation sequencing and emerging methods, this highlights the need for standardized, reproducible approaches. The decision-making needs to incorporate effective genetic counseling, ethical and communicative considerations, and collaboration between clinicians, geneticists, and bioinformaticians. Ensuring equitable access to advanced genetic diagnostics is crucial to support accurate diagnoses, guide clinical management, and inform family planning. All this together highlights the need to combine clinical expertise and genetic research into an interdisciplinary collaboration, enabling individualized treatment and improved outcomes for individuals with IEIs.

Identifiers

PMID42169991
PMCPMC13177738

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.