A multidisciplinary RNA-guided approach to complement genomic analysis of unsolved patients with an inborn error of immunity - Scorecard - 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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Clinical Scorecard: A Comprehensive RNA-Directed Strategy to Enhance Genomic Evaluation in Patients with Unresolved Inborn Errors of Immunity

At a Glance

CategoryDetail
Condition
Key MechanismsRNA-guided variant interpretation to enhance genetic diagnostic yield.
Target Population
Care Setting

Key Highlights

  • IEI comprises over 550 disorders linked to more than 500 genes.
  • Current diagnostic rates for IEI range from 15–70%.
  • RNA-sequencing can increase diagnostic yield by 4–12%.
  • Two conclusive diagnoses were made in a cohort of 22 patients.
  • Aberrant expression and splicing analysis can reveal causative variants.

Guideline-Based Recommendations

Diagnosis

  • Integrate RNA-sequencing into routine diagnostics for IEI.

Management

  • Utilize RNA-guided approaches to improve genetic testing outcomes.

Monitoring & Follow-up

  • Monitor for potential complications due to prolonged inflammation and infections.

Risks

  • Missed diagnoses due to variants of uncertain significance.

Patient & Prescribing Data

Patients with suspected IEI and inconclusive genetic testing results.

Clinical Best Practices

  • Employ multidisciplinary teams for genetic evaluation.
  • Use whole blood as a clinically relevant tissue for RNA-seq in IEI diagnostics.
  • Apply structured RNA-guided approaches for variant interpretation.

Related Resources & Content

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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