Clinical and Experimental Pediatrics

Review Article

Immunology

Modern diagnostic capabilities of neonatal screening for primary immunodeficiencies in newborns

Evgenia Olegovna Khalturina, Natalia Dmitrievna Degtyareva, Anastasiia Vasi’evna Bairashevskaia, Alena Valerievna Mulenkova, Anna Vladimirovna Degtyareva

Clin Exp Pediatr. 2021;64(10):504-510. Published online March 25, 2021

Web of Science 3 Crossref 3

· Neonatal screening for primary immunodeficiency diseases (PIDs) enables early diagnosis and subsequent initiation of therapy.
· Excision of T-cell receptors and kappa-recombination excision circles are cheaper alternative PID screening methods.
· Sanger DNA sequencing remains the reference method for detecting PID; however, next-generation sequencing technology is increasingly used to diagnose it.
· Here we developed a graphical algorithm for diagnosing primary immunodeficiency syndrome based on modern methods of screening for primary immunodeficiencies in newborns.

DOI: https://doi.org/10.3345/cep.2020.01270

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