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

A structured RNA-guided approach for reanalyzing unsolved patients with inborn errors of immunity. The method was applied to a cohort of 22 patients where standard genetic testing was inconclusive. The work was authored by Willem T. K. Maassen and last updated in May 2026.

Use Cases

• Identify pathogenic splice variants based on RNA-sequencing outlier detection
• Reclassify variants of uncertain significance using expression and splicing data
• Support genetic diagnosis for unsolved inborn error of immunity cases based on multi-disciplinary analysis

Strengths

• Describes a structured, multi-disciplinary analysis method for a specific clinical problem
• Reports results from a defined cohort of 22 patients
• Provides specific examples of diagnosed pathogenic variants in IKBKG, CYBB, and NFKB1 genes

Limitations

• The dataset is a 29.4 KB DOCX document, not a primary data file
• Row and column-level data are unavailable for direct analysis
• The cohort size of 22 patients is small

Provenance

Source

figshare

Collection Method

Multi-disciplinary team analysis of patient RNA-sequencing data

Freshness

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