Type 1 interferonopathies

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Type 1 interferonopathies. These are autoimmune neuroinflammatory disorders. Fully referenced neurology checklist.

Pathology

  • These are autoimmune neuroinflammatory disorders
  • They result from overactivity of type I interferons

Common genetic mutations

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Clinical phenotypes

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Characteristic features

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Neuroradiological features

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Treatment

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Acronym

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References

  1. Günther C, Schmidt F, König N, Lee-Kirsch MA. Type I interferonopathies. Systemic inflammatory diseases triggered by type I interferons. Z Rheumatol 2016; 75:134-140. 
  2. Lee-Kirsch MA, Wolf C, Kretschmer S, Roers A. Type I interferonopathies-an expanding disease spectrum of immunodysregulation. Semin Immunopathol 2015; 37:349-357. 
  3. Volpi S, Picco P, Caorsi R, Candotti F, Gattorno M. Type I interferonopathies in pediatric rheumatology. Pediatr Rheumatol Online J 2016; 14:35.
  4. Papa R, Volpi S, Gattorno M. Monogenetic causes of chilblains, panniculitis and vasculopathy: the Type I interferonopathies. G Ital Dermatol Venereol 2020; 155:590-598.
  5. Benjamin P, Sudhakar S, D'Arco F, et al. Spectrum of neuroradiologic findings associated with monogenic interferonopathies. Am J Neuroradiol 2022; 43:2-10.

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