TREX1 Mutation Case Report: RVCL-S and Lupus Nephritis Coexistence

Wenjie Hao authored a case report published on figshare in March 2026. The report details the first documented instance of a patient with a pathogenic TREX1 mutation (c.811_812dup, p.Asp272Argfs*6) presenting with both retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) and lupus nephritis. The 284.4 KB PDF discusses the clinical challenge of managing immunosuppressive therapy for lupus nephritis in the context of RVCL-S.

Use Cases

• Analyze clinical presentation patterns based on the detailed case description of neurological deficits and renal biopsy findings
• Study genotype-phenotype correlations based on the specific pathogenic TREX1 mutation identified
• Investigate therapeutic challenges based on the discussion of immunosuppressive therapy risks
• Review diagnostic criteria based on the integration of brain imaging and whole-exome sequencing results

Strengths

• The report includes a specific pathogenic mutation (c.811_812dup, p.Asp272Argfs*6) identified via whole-exome sequencing
• It documents a first-of-its-kind case combining RVCL-S and biopsy-proven lupus nephritis
• The dataset is openly licensed under CC-BY-4.0

Limitations

• The dataset is a single case report (284.4 KB), offering limited scope for statistical analysis
• Column-level documentation is absent; field semantics must be inferred after download
• Row count is unknown, which may limit suitability assessment

Provenance

Source

figshare

Collection Method

Clinical case documentation and genetic analysis.

Freshness

Last updated 2026-03-19 06:48:27