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Article

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

International journal of molecular sciences - 5 Sept 2026

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

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Humans
Male
Female
Genetic Heterogeneity
Whole Genome Sequencing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Agammaglobulinemia

Russia

Phenotype

Cross-Sectional Studies

Child, Preschool

Child

Common Variable Immunodeficiency

Cohort Studies

Mutation

Agammaglobulinaemia Tyrosine Kinase

Genetic Diseases, X-Linked

Source

Open in PubMed Open full text

Identifiers

PMID: 42737820
DOI: 10.3390/ijms27177923
PMCID: PMC13565858

Genes

BTK
AIRE
ATM
CARD11
CD40LG
CHD7
CTLA4
CYBB
IKBKB
NFKB1
SBDS
SH2D1A
SOCS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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