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

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

  • By

  • Willem T. K. Maassen

  • Lotte C. E. T. Pape

  • Tim Niemeijer

  • Anne-Margriet Heijink

  • Martine T. Meems-Veldhuis

  • Daniëlle J. Boerrigter

  • Gerben van der Vries

  • Helga Westers

  • Lennart F. Johansson

  • Kasper J. van der Velde

  • Morris A. Swertz

  • Lude Franke

  • Geertje E. Legger

  • Annechien J. A. Lambeck

  • Abraham Rutgers

  • Iris H. Jonkers

  • Mariëlle E. van Gijn

  • Evelien Zonneveld-Huijssoon

  • May 28, 2026

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  • 1

    Inborn errors of immunity (IEI) include over 550 disorders linked to more than 500 genes, with diagnostic rates ranging from 15% to 70%.

  • 2

    A structured RNA-guided approach was developed to reanalyze unsolved IEI patients, aiming to increase the diagnostic yield of genetic testing.

  • 3

    The study analyzed 22 patients with inconclusive standard genetic testing, focusing on aberrant expression and splicing to identify causative variants.

  • 4

    Two patients received conclusive diagnoses through RNA-guided variant interpretation, highlighting its potential to improve genetic diagnostic yield.

  • 5

    Integrating RNA-sequencing into routine diagnostics may enhance the precision of genetic diagnoses for patients with inborn errors of immunity.

Original Source(s)

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

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

  • May 28, 2026

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