Autoinflammatory & rare systemic diseases
Consanguinity and rare monogenic systemic autoinflammatory disorders: implications for prevalence and genetic variability
Authors' conclusion
Our cohort demonstrates that rare monogenic SAIDs and novel pathogenic variants tend to cluster within consanguineous families.
Study context
- Population
- Patients with confirmed Systemic Autoinflammatory disorders (SAIDs) at the main tertiary center in Saudi Arabia
- Participants
- 200 patients
- Outcome
- Consanguinity rate among patients with SAIDs and its impact on prevalence and genetic variability of rare monogenic SAIDs
Methodological detailsretrospective review of medical records, single tertiary centre
- Retrospective review of medical records
- Single tertiary centre
Main finding
As reported in the abstract
Consanguinity
- Consanguinity among patients with SAIDs
- 78%
- Positive family history of SAIDs
- 52%
- Rare monogenic SAIDs
- 38
- Consanguinity in first- and second-degree relatives among rare monogenic SAIDs
- 78%
- Novel pathogenic or likely pathogenic variants in rare monogenic SAIDs (14 distinct genes)
- 70%
Observational data: associations, not effects.
Further findings
Genetic testing and diagnostic yield
- Genomic DNA sequencing performed
- 85%
- Whole exome sequencing
- 75%
- Sanger sequencing
- 14.7%
- Targeted gene panel sequencing
- 9.4%
- Confirmed monogenic etiology
- 67%
SAID types
- Pyrin inflammasopathies
- 48
- Other inflammasopathies
- 20
- Type I interferonopathies
- 29
- NF-kB mediated SAIDs
- 7
- Miscellaneous SAIDs
- 15
- Undifferentiated SAIDs
- 42
- Polygenic SAIDs
- 39
Original publication
Consanguinity and rare monogenic systemic autoinflammatory disorders: implications for prevalence and genetic variability. Pediatr Rheumatol Online J. Published 30 July 2025. doi:10.
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