Children With Type I Interferonopathy: Commonalities and Diversities in a Large Patient Cohort
Authors' conclusion
For the first time, we evaluated the predictors of poor outcomes in patients with type I interferonopathy with a broad spectrum of subtypes.
Study context
- Population
- Children with genetically confirmed type I interferonopathies, follow-up > 1 year52.5% female
- Participants
- 40 children
- Outcome
- Clinical features, laboratory and screening results, treatment options and outcomes of type I interferonopathy
Methodological detailsunivariate and multivariate logistic regression, Data obtained retrospectively from medical records
- Univariate and multivariate logistic regression
- Data obtained retrospectively from medical records
Main finding
As reported in the abstract
- Median age at disease onset (range 0.1-13.2 yrs)
- 1.5 years
- Mean age at diagnosis (SD 4.6)
- 6.8 years
- Aicardi-Goutières syndrome, most common diagnosis
- n = 15, 37.5%
- Central nervous system, most frequently affected system
- n = 27, 67.5%
- JAKi administered
- 17 (42.5%)
- Poor outcome (≥1 permanent morbidity or death during follow-up)
- 25 (62.5%)
Observational data: associations, not effects.
Further findings
Predictors of poor outcome: Intracranial calcification (ICC) on MRI at admission (multivariate logistic regression)
| aOR (95% CI) | P value | ||
|---|---|---|---|
| ICC on MRI at admission | 19.69 (1.08–359.05) | P = 0.04 | |
| 0.050.21520Adjusted odds ratio (log scale) |
- Younger age at onset, ICC, lack of chilblains and elevated acute-phase reactants significant in univariate analysis; only ICC significant in multivariate analysis
Original publication
Children With Type I Interferonopathy: Commonalities and Diversities in a Large Patient Cohort. J Rheumatol. Published 1 August 2024. doi:10.
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