What does this research mean for the field?

Whole-genome sequencing identifies causative pathogenic variants in 19% of patients with inborn errors of immunity in a Russian cohort and reveals rare variant patterns associated with clinical manifestations in CVID-like phenotypes. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

To identify causative genetic variants and characterize molecular heterogeneity in patients with diverse inborn errors of immunity using whole-genome sequencing.

September 8, 2026International Journal of Molecular SciencesOpen Access

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

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Authors

YPYunna S. Petrusenko490 BioTech (United States)TSTikhon V. SavinFirst Pavlov State Medical University of St. Petersburg ASAnna V. SedykhSaint Petersburg Pasteur Institute

Discussion

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Overview

Observational cross-sectional study reveals causative genetic variants in Russian patients with inborn errors of immunity, highlighting pathway-level drivers of immune deficiency.

Key Points

To identify causative genetic variants and characterize molecular heterogeneity in patients with diverse inborn errors of immunity using whole-genome sequencing.
Conducted an observational cross-sectional genomic study using whole-genome sequencing.
Analyzed N=72 patients with inborn errors of immunity from Saint Petersburg and Northwestern Russia, comprising 42 with CVID-like phenotypes, 6 with XLA, and 24 with other forms.
Identified and classified variants using the 2024 IUIS gene list and performed pathway-level analyses of rare variants within the CVID-like subcohort.
Pathogenic or likely pathogenic causative variants were identified in 14 of 72 patients (19%) in BTK, CYBB, CHD7, AIRE, ATM, SBDS, NFKB1, and CTLA4.
Potentially phenotype-linked variants of uncertain significance were detected in 6 patients across BTK, SH2D1A, SOCS1, IKBKB, CARD11, and CD40LG.
Pathway-level analysis of patient-specific rare variants in the CVID-like subcohort identified distinct functional patterns associated with clinical manifestations.

Cite This Study

Petrusenko et al. (2026) studied this question.

synapsesocial.com/papers/6a9fd78a58e84d0ff5b46544 https://doi.org/10.3390/ijms27177923

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September 8, 2026International Journal of Molecular SciencesOpen Access

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

View Full Paper

Ask AI

Bookmark

Authors

YPYunna S. Petrusenko490 BioTech (United States)TSTikhon V. SavinFirst Pavlov State Medical University of St. Petersburg ASAnna V. SedykhSaint Petersburg Pasteur Institute

Discussion

Member takes

Overview

Observational cross-sectional study reveals causative genetic variants in Russian patients with inborn errors of immunity, highlighting pathway-level drivers of immune deficiency.

Key Points

To identify causative genetic variants and characterize molecular heterogeneity in patients with diverse inborn errors of immunity using whole-genome sequencing.
Conducted an observational cross-sectional genomic study using whole-genome sequencing.
Analyzed N=72 patients with inborn errors of immunity from Saint Petersburg and Northwestern Russia, comprising 42 with CVID-like phenotypes, 6 with XLA, and 24 with other forms.
Identified and classified variants using the 2024 IUIS gene list and performed pathway-level analyses of rare variants within the CVID-like subcohort.
Pathogenic or likely pathogenic causative variants were identified in 14 of 72 patients (19%) in BTK, CYBB, CHD7, AIRE, ATM, SBDS, NFKB1, and CTLA4.
Potentially phenotype-linked variants of uncertain significance were detected in 6 patients across BTK, SH2D1A, SOCS1, IKBKB, CARD11, and CD40LG.
Pathway-level analysis of patient-specific rare variants in the CVID-like subcohort identified distinct functional patterns associated with clinical manifestations.

Cite This Study

Petrusenko et al. (2026) studied this question.

synapsesocial.com/papers/6a9fd78a58e84d0ff5b46544 https://doi.org/10.3390/ijms27177923

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