Evidence map›Paper›PMID 42737820›Full record

ArticleInternational journal of molecular sciences2026

Genetic Heterogeneity of Inborn Errors of Immunity Revealed by Whole-Genome Sequencing: Insights from a Russian Patient Cohort.

Yunna Petrusenko, Tikhon Savin, Anna Sedykh, Nikolay Chekanov, Evgeny Klimuk, Yulia Ostankova, Raisa Kuznetsova, Anna Chernyshova, Anzhelika Milichkina, Areg Totolian and 1 more

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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. Not yet cited in PubMed.

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0citing papers in PubMed
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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

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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

11 authors.

Yunna PetrusenkoBiotech Campus LLC., 117437 Moscow, Russia.ORCID 0009-0002-8318-5241
Tikhon SavinSaint Petersburg Pasteur Institute, 197101 St. Petersburg, Russia.ORCID 0000-0003-4550-4870
Anna SedykhSaint Petersburg Pasteur Institute, 197101 St. Petersburg, Russia.ORCID 0009-0003-0613-0383
Nikolay ChekanovBiotech Campus LLC., 117437 Moscow, Russia.ORCID 0000-0003-1131-3195
Evgeny KlimukBiotech Campus LLC., 117437 Moscow, Russia.ORCID 0000-0001-5314-038X
Yulia OstankovaSaint Petersburg Pasteur Institute, 197101 St. Petersburg, Russia.ORCID 0000-0003-2270-8897
Raisa KuznetsovaSaint Petersburg Pasteur Institute, 197101 St. Petersburg, Russia.
Anna ChernyshovaSaint Petersburg Pasteur Institute, 197101 St. Petersburg, Russia.
Anzhelika MilichkinaSaint Petersburg Pasteur Institute, 197101 St. Petersburg, Russia.
Areg TotolianSaint Petersburg Pasteur Institute, 197101 St. Petersburg, Russia.ORCID 0000-0003-4571-8799
Konstantin SeverinovBiotech Campus LLC., 117437 Moscow, Russia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Identifying genetic cause(s) is a key step for management and treatment of patients with inborn errors of immunity (IEI). Here, in an observational cross-sectional genomic study, we analyzed whole-genome sequencing (WGS) data of 72 IEI patients from Saint Petersburg and Northwestern Russia: 42 patients with common variable immunodeficiency (CVID)-like phenotypes, 6 patients with clinically diagnosed X-linked agammaglobulinemia (XLA or Bruton's disease), and 24 patients with other forms of IEI. Causative pathogenic and likely pathogenic variants in

Indexed as

AgammaglobulinemiaGenetic HeterogeneityWhole Genome SequencingAgammaglobulinaemia Tyrosine KinaseChildChild, PreschoolCohort StudiesCommon Variable ImmunodeficiencyCross-Sectional StudiesFemaleGenetic Diseases, X-LinkedHumansMaleMutationPhenotypeRussiaAgammaglobulinaemia Tyrosine Kinasecommon variable immunodeficiency (CVID)DNA damage responseimmune dysregulationimmune signaling pathwaysinborn errors of immunity (IEI)rare variantswhole-genome sequencing (WGS)X-linked agammaglobulinemia (XLA)

Identifiers

PMID42737820
PMCPMC13565858

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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.