Novel TLR7 gain-of-function variant and review of the associated disease spectrum - PubMed
5 hours ago
- #genetic screening
- #systemic lupus erythematosus
- #TLR7
- Early-onset systemic lupus erythematosus (SLE) is often severe and may have monogenic causes in at least 10% of juvenile cases.
- A novel P435S gain-of-function (GOF) variant in TLR7 was identified in a female patient with early-onset SLE, recurrent infections, and neuroinflammatory features.
- Functional assays confirmed the pathogenicity of the TLR7 GOF variant, supporting its role in disease onset and progression.
- A systematic review of 11 additional cases highlighted shared and divergent phenotypic features of TLR7 GOF-associated disease.
- The findings emphasize the importance of genetic screening in early-onset SLE with atypical features.