RNA-Guided Analysis of 22 Unsolved Inborn Error of Immunity Patients

A 2026 study by Willem T. K. Maassen presents a structured RNA-guided reanalysis of 22 patients with suspected inborn errors of immunity. The multidisciplinary approach used RNA-sequencing to detect aberrant expression, splicing, and mono-allelic expression to identify causative variants. The analysis provided conclusive diagnoses for 2 out of the 22 patients.

Use Cases

• Benchmarking RNA-guided variant interpretation methods based on the described cohort of 22 unsolved patients.
• Training models to identify splicing outliers or expression outliers in genetic diagnostic workflows.
• Studying the diagnostic yield of integrating RNA-sequencing into standard genetic testing for inborn errors of immunity.

Strengths

• The study provides a concrete diagnostic yield of 2 out of 22 patients using the described method.
• The description details specific pathogenic variants identified, such as in IKBKG, CYBB, and NFKB1.
• The dataset is openly available under a CC-BY-4.0 license.

Limitations

• The primary data file is a 273.2 KB DOCX document; the underlying sequencing or clinical data is not directly accessible.
• The cohort size is limited to 22 patients, which may limit statistical power for broader conclusions.
• Column-level documentation for any potential supplementary data is absent.

Provenance

Source

figshare

Collection Method

A multidisciplinary team systematically reanalyzed a cohort of 22 patients using RNA-sequencing data.

Freshness

Last updated 2026-05-27 20:01:48.