A multidisciplinary RNA-guided approach to complement genomic analysis of unsolved patients with an inborn error of immunity.

doi:10.3389/fimmu.2026.1829883

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A multidisciplinary RNA-guided approach to complement genomic analysis of unsolved patients with an inborn error of immunity.

Frontiers in immunology - 1 Jan 2026

Maassen Willem T K, Pape Lotte C E T, Niemeijer Tim, Heijink Anne-Margriet, Meems-Veldhuis Martine T, Boerrigter Daniëlle J, van der Vries Gerben, Westers Helga, Johansson Lennart F, van der Velde Kasper J, Swertz Morris A, Franke Lude, Legger Geertje E, Lambeck Annechien J A, Rutgers Abraham, Jonkers Iris H, van Gijn Mariëlle E, Zonneveld-Huijssoon Evelien

Abstract excerpt

Introduction: Inborn errors of immunity (IEI) comprise a heterogeneous, and growing, group of over 550 disorders linked to over 500 genes. Current diagnostic rates for IEI range from 15-70%, with missed diagnoses likely explained by variants of uncertain significance that lack evidence for reclassification and/or variants undetectable with current methods. To overcome these limitations, we developed a structured,...

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PMID: 42282956
DOI: 10.3389/fimmu.2026.1829883
PMCID: PMC13252776

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