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Article

Genetic Characteristics of a Large Pediatric Cohort of Patients with Inborn Errors of Immunity: Single-Center Experience.

Journal of clinical immunology - 25 Jul 2024

Kuzmenko Natalia, Alexenko Maxim, Mukhina Anna, Rodina Yulia, Fadeeva Mariia, Pershin Dmitrii, Kieva Amina, Raykina Elena, Maschan Miсhael, Novichkova Galina, Shcherbina Anna

Abstract excerpt

More than 450 genetic defects result in inborn errors of immunity (IEI). Their individual prevalence in specific cohorts is influenced by national characteristics and other factors. We present results of genetic testing conducted in 1809 Russian children with IEI. Genetic defects confirming IEI were found in 1112 out of 1809 (61.5%) probands. These defects included variants in 118 single genes (87.9% of patients)...

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

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Identifiers

PMID: 39052144
DOI: 10.1007/s10875-024-01767-w

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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