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

Willem T. K. Maassen's dataset from a 2026 figshare publication details a multidisciplinary RNA-guided reanalysis of 22 patients with suspected inborn errors of immunity (IEI) for whom standard genetic testing was inconclusive. The data likely contains results from evaluating aberrant expression, splicing, and mono-allelic expression to identify causative genetic variants. The study concluded with a diagnosis for 2 out of the 22 patients in the cohort.

Use Cases

• Benchmarking RNA-sequencing analysis pipelines for detecting splicing outliers in clinical genetics.
• Training machine learning models to prioritize variants of uncertain significance based on RNA expression data.
• Studying the molecular mechanisms of specific IEI genes like IKBKG, CYBB, and NFKB1 mentioned in the results.

Strengths

• Data is associated with a published methodological study with a clear cohort size of 22 patients.
• The dataset has a specific, permissive license (CC-BY-4.0) for reuse.

Limitations

• Row count and column-level documentation are unknown, requiring manual inspection after download.
• The dataset is very small at 22.2 KB, indicating limited scope and sample size.

Provenance

Source

figshare, author Willem T. K. Maassen.

Collection Method

RNA-sequencing and multidisciplinary analysis of a clinical patient cohort.

Freshness

Last updated 2026-05-27 20:01:47.