Lupus & antiphospholipid syndrome
Genetic landscape of early-onset systemic lupus erythematous in India
An erratum to this article was published (Rheumatology (Oxford), 1 Aug 2026 ↗)
Authors' conclusion
Monogenic causes were found in at least 6.1% of the overall cohort of pSLE and in 22.7% of genetically screened cases, with the highest yield in EOSLE (28.4%). C1QA was the most common single-gene defect (7.2%).
Study context
- Population
- Indian pediatric SLE (pSLE) cohort: patients with early-onset systemic lupus erythematosus (EOSLE) (age ≤8 years) and/or clinical suspicion of monogenic lupusof 365 pSLE patients
- Participants
- 97 participants
- Exposure
- EOSLE vs Older children
- Outcome
- Monogenic causes (pathogenic variants) of EOSLE
Methodological detailsgenetic screening: targeted next-generation sequencing and whole-exome sequencing, Targeted NGS (Ion S5) in 55 of 97 (complement defect panel in 28; Interferon (IFN)+ Adaptive Immunity panel in 27); Whole-exome sequencing (WES) in remaining 42
- Genetic screening: targeted next-generation sequencing and whole-exome sequencing
- Targeted NGS (Ion S5) in 55 of 97 (complement defect panel in 28; IFN+ Adaptive Immunity panel in 27); WES in remaining 42
Main finding
As reported in the abstract
Pathogenic variants (monogenic lupus)
Patients carrying pathogenic variants among 97 screened
22
22.68%
Diagnostic yield, EOSLE
28.4%
Diagnostic yield, older children
4.4%
Monogenic causes in overall pSLE cohort
at least 6.1%
Observational data: associations, not effects.
Further findings
Characteristics of monogenic cases
- Median symptom onset (range 2 months to 9 years)
- 2 years
- Consanguinity
- 7/22 (31.8%)
- Sex
- 11 boys and 11 girls
Genes with variants
- C1QA
- 7
- C1QC
- 2
- C1QB
- 1
- C1R
- 1
- C3
- 2
- ACP5
- 2
- STING1, DNASE2, ADAR, TREX1, DNASE1L3, PEPD and SLC7A7 (each)
- 1
- C1QA, most common single-gene defect
- 7.2%
Original publication
Genetic landscape of early-onset systemic lupus erythematous in India. Rheumatology (Oxford). Published 27 November 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →