Data Sheet 7: RNA-Guided Analysis of Unsolved Inborn Error of Immunity Cases

22 unsolved patients with suspected inborn errors of immunity were reanalyzed using a structured RNA-guided approach. The study, authored by Willem T. K. Maassen and last updated in May 2026, identified conclusive diagnoses for 2 out of the 22 patients. This demonstrates how RNA-sequencing can improve diagnostic yield for complex genetic disorders.

Use Cases

• Benchmark RNA-guided variant interpretation methods based on the described cohort of 22 patients.
• Study the impact of aberrant splicing on disease phenotype based on the specific splice variants identified.
• Develop models for reclassifying variants of uncertain significance using the described RNA-sequencing evidence.
• Train classifiers for detecting expression or splicing outliers in genetic diagnostic workflows.

Strengths

• The dataset is associated with a specific, published study detailing a structured diagnostic approach.
• Results include concrete examples of pathogenic variants identified in genes like IKBKG, CYBB, and NFKB1.
• The data is shared under a permissive CC-BY-4.0 license.

Limitations

• The primary data file is a 1.1 MB DOCX document; the underlying raw sequencing or processed data is not directly available.
• Column-level documentation is absent; field semantics must be inferred from the document text.
• The cohort size of 22 patients is relatively small for broad statistical analysis.

Provenance

Source

figshare

Collection Method

A multidisciplinary team analyzed a cohort of 22 patients using RNA-sequencing and variant interpretation.

Freshness

Last updated 2026-05-27 20:01:49.