Monogenic and Systemic Lupus Erythematosus (SLE)-like disorders in the pediatric population: insights from a Northern Israel cohort
Authors' conclusion
Monogenic SLE was identified in 46% of the children within this selected cohort.
Study context
- Population
- Patients diagnosed with SLE before age 18 years, single tertiary pediatric medical center, Northern Israel, 2010–2021single tertiary paediatric centre
- Participants
- 75 patients
- Outcome
- Monogenic causes of SLE among patients meeting criteria for suspected monogenic SLE
Methodological detailssingle-centre, tertiary pediatric medical center, Monogenic SLE suspected with any of: family history of SLE, consanguinity, onset under 10 years, atypical clinical course, male gender, syndromic features; genetic evaluation performed in these patients
- Single-centre
- Tertiary pediatric medical center
- Monogenic SLE suspected with any of: family history of SLE, consanguinity, onset under 10 years, atypical clinical course, male gender, syndromic features; genetic evaluation performed in these patients
Main finding
As reported in the abstract
Monogenic form of SLE diagnosed
Monogenic SLE among genetically evaluated patients
6 of the 13 patients
46%
Monogenic SLE in entire cohort
8%
Met criteria for suspected monogenic SLE
18
24%
Genetic evaluation conducted among suspected
13 out of the 18 patients (72%)
Observational data: associations, not effects.
Further findings
Specific monogenic diagnoses
- Prolidase deficiency
- 4
- Aicardi-Goutières syndrome (AGS)
- 1
- Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) syndrome
- 1
- Candidate variants in C4B and ITPR3 genes in an additional pedigree
Original publication
Monogenic and SLE-like disorders in the pediatric population: insights from a Northern Israel cohort. Lupus. Published 13 January 2026. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →