Article

Genetic characteristics of a large pediatric cohort of patients with inborn errors of immunity: single-center experience

2024-03-04

Abstract excerpt

<title>Abstract</title> <p>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 singl...

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Literature Corpus work: 3b046add-e0ef-5142-81b0-a821f67d854e
DOI: 10.21203/rs.3.rs-3987898/v1

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