Detection of genetic mutations underlying early-onset systemic lupus erythematosus
Study context
- Population
- Pediatric systemic lupus erythematosus (SLE) patients with early disease onset (≤6 years) fulfilling Systemic Lupus International Collaborating Clinics (SLICC) criteriaF/M = 12/3
- Participants
- 15 patients
- Outcome
- Presence of monogenic causes of SLE (pathogenic gene mutations by WES)
Methodological detailsgenetic study, whole exome sequencing (WES), whole exome sequencing, Sanger sequencing confirmation
- Genetic study, WES
- Whole exome sequencing
- Sanger sequencing confirmation
Main finding
As reported in the abstract
Significant gene mutations detected
Early-onset SLE
33.3%
5 of 15
Observational data: associations, not effects.
Further findings
| Outcome | Values |
|---|---|
| Age at diagnosis | Early-onset SLE median 4 (range 2–6) years |
Treatment response
- All patients have responded to the treatments and have low Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) scores, on therapy
Original publication
Detection of genetic mutations underlying early-onset systemic lupus erythematosus. Lupus. Published 13 May 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →