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

A research article describes a multidisciplinary RNA-guided approach to reanalyze unsolved patients with inborn errors of immunity. The study by Willem T. K. Maassen, posted on figshare in May 2026, analyzed a cohort of 22 patients where standard genetic testing was inconclusive. The approach led to a conclusive diagnosis for 2 out of 22 patients.

Use Cases

• Identify pathogenic splice variants based on RNA-sequencing outlier detection described in the methods.
• Evaluate mono-allelic expression patterns based on allele-specific read counts at heterozygous SNVs mentioned in the study.
• Reclassify variants of uncertain significance using structured RNA-guided interpretation as outlined in the conclusion.

Strengths

• The study provides a concrete diagnostic yield, identifying causative variants in 2 out of 22 patients.
• The methodology is described in detail, including analysis of aberrant expression, splicing, and mono-allelic expression.
• The data is shared under a permissive CC-BY-4.0 license.

Limitations

• The dataset is a single 8.7 MB DOCX file; the underlying data tables or sequences are not directly accessible.
• Row count and column-level documentation are absent; data structure must be inferred from the article text.
• The cohort size is limited to 22 patients, which may affect the generalizability of the findings.

Provenance

Source

figshare

Collection Method

A multidisciplinary team analyzed a cohort of 22 patients using a structured RNA-guided approach.

Freshness

Last updated 2026-05-27 20:01:49; freshness should be verified.