Article
Genetics of inborn errors of immunity: Diagnostic strategies and new approaches to CNV detection.
European journal of clinical investigation - 1 Jun 2024
Pérez Elisabet Matas, Torbay Andrea González, López Mario Solis, de la Cámara Ricardo Cuesta Martín, Jiménez Carmen Rodríguez, Álvarez Mari Ángeles Mori, Blanco Julián Nevado, Gianelli Carla, Hijón Carmen Cámara, Granados Eduardo López, Pena Rebeca Rodríguez, Del Pozo Mate Ángela, García-Morato María Bravo
Abstract excerpt
BACKGROUND: Genetic diagnosis of inborn errors of immunity (IEI) is complex due to the large number of genes involved and their molecular features. Missense variants have been reported as the most common cause of IEI. However, the frequency of copy number variants (CNVs) may be underestimated since their detection requires specific quantitative techniques. At this point, the use of Next Generation Sequencing...
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