Monogenic interferon mediated diseases: novel phenotype and genotype characteristics from Saudi population
Authors' conclusion
Our findings support the previous reports; early-onset fever, neurology, and respiratory features should raise the suspicion of interferonopathies. However, there is eminent evidence of phenotypic variability. Our data also expanded the spectrum of clinical findings in relation to novel genetic variants.
Study context
- Population
- Saudi children with genetically confirmed type I interferonopathies11 females
- Participants
- 20 children
- Outcome
- Genotype and phenotype findings
Methodological detailsdescriptive, Whole exome sequencing in 15 patients, targeted gene tests in 3, leukoencephalopathy genetic panel in 2
- Descriptive
- Whole exome sequencing in 15 patients, targeted gene tests in 3, leukoencephalopathy genetic panel in 2
Main finding
As reported in the abstract
- Presented within the first 2 years
- 16 (80%)
- Age of disease onset, median (IQR), years
- 0.87 (0.5-2)
- Age of diagnosis, median (IQR), years
- 4.5 (2-7.5)
- Consanguinity
- 88%
- Family history of affected members
- 47%
- Aicardi-Goutières syndrome (RNASEH2A, RNASEH2C, IFIH1 variants)
- 8
- STING-associated vasculopathy with onset in infancy (TMEM173 variant)
- 2
- Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (PSMB8)
- 1
- DNase II
- 1
- Rare interferonopathy conditions (3 ISG15, 3 ZNFX1, 1 SOCS1, 1 STAT1)
- 8
- Novel genetic variants, of 12 variants
- 6 (50%)
- Fever
- 75%
- Neurology
- 70%
- Mucocutaneous
- 60%
- Gastrointestinal
- 50%
- Pulmonary
- 50%
- Hypogammaglobinaemia
- 45%
- Recurrent infections
- 20%
- Elevated inflammatory markers
- 15 (75%)
Observational data: associations, not effects.
Original publication
Monogenic interferon mediated diseases: novel phenotype and genotype characteristics from Saudi population. Clin Exp Rheumatol. Published 4 January 2024. doi:10.
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