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

  • 0 min

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Objective:

To develop a structured, RNA-guided approach to reanalyze unsolved inborn errors of immunity (IEI) patients and increase the diagnostic yield of genetic testing, addressing limitations of current methods.

Key Findings:
  • Detected a splice variant in IKBKG explaining the phenotype of one male patient.
  • Identified a pathogenic splice variant in CYBB in a female patient, leading to decreased functional transcripts.
  • Found a deep-intronic variant in NFKB1 activating a cryptic splice site in a patient with NFKB1 haploinsufficiency.
Interpretation:

Limitations:
  • Only 2 out of 22 patients received a conclusive diagnosis.
  • The study's findings may not be generalizable beyond the specific cohort analyzed, limiting broader applicability.
Conclusion:

Integrating RNA-sequencing into routine diagnostics could enhance genetic diagnoses of IEI based on the findings of this study.

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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