Data Sheet 3: RNA-Guided Analysis of Unsolved Inborn Error of Immunity Patients

A research document detailing a structured RNA-guided approach to reanalyze 22 patients with suspected inborn errors of immunity (IEI) for whom standard genetic testing was inconclusive. The study, authored by Willem T. K. Maassen and posted on figshare in May 2026, describes the methodology and results of a multidisciplinary analysis. It reports a conclusive diagnosis for 2 out of 22 patients, demonstrating how RNA-sequencing can improve diagnostic yield.

Use Cases

• Benchmarking RNA-guided variant interpretation methods based on the described cohort of 22 patients.
• Studying the role of aberrant splicing in inborn errors of immunity based on the specific splice variants identified.
• Developing diagnostic criteria for variants of uncertain significance based on the structured, multidisciplinary approach outlined.

Strengths

• The study provides a specific diagnostic yield of 2 out of 22 patients.
• The description details concrete genetic findings, including specific pathogenic variants in IKBKG, CYBB, and NFKB1.
• The methodology is clearly described, involving a multidisciplinary team and systematic evaluation of RNA-sequencing data.

Limitations

• The dataset is a 39.6 KB DOCX document, which is a very small text file and not a structured data table.
• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment for quantitative analysis.

Provenance

Source

figshare

Collection Method

Multidisciplinary team analysis of a clinical cohort using RNA-sequencing.

Freshness

Last updated 2026-05-27 20:01:48; freshness should be verified.