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Type I Interferonopathies

  • Cécile Frachette
  • Rolando Cimaz
  • Alexandre BelotEmail author
Chapter
Part of the Rare Diseases of the Immune System book series (RDIS)

Abstract

Type-I interferon (IFN)-mediated immune response involves both innate and adaptive immune systems and has a pivotal role in antiviral defense. The observation of an aberrant stimulation of this system as a common molecular basis in peculiar inherited autoimmune and autoinflammatory disorders led to the concept of “type I interferonopathies.” These latter diseases can be associated with recurrent fever and a large number of symptoms with an extremely broad phenotype, from an isolated increase of IFN-stimulated genes in whole blood without clinical symptoms to a severe neonatal encephalopathy. Here we review the main clinical features of this emerging entity and discuss the management for diagnosis and treatment.

Keywords

Type I interferon Autoinflammatory diseases Transcriptome Genetic TREX1 Aicardi-Goutières Syndrome 

References

  1. 1.
    Isaacs A, Lindenmann J. Virus interference. I. The interferon. By A. Isaacs and J. Lindenmann, 1957. J Interf Res. 1987;7(5):429–38.CrossRefGoogle Scholar
  2. 2.
    Aicardi J, Goutières F. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis: Aicardi and Goutieres: basal ganglia calcifications. Ann Neurol. 1984;15(1):49–54.CrossRefGoogle Scholar
  3. 3.
    Lebon P, Badoual J, Ponsot G, Goutières F, Hémeury-Cukier F, Aicardi J. Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy. J Neurol Sci. 1988;84(2–3):201–8.CrossRefGoogle Scholar
  4. 4.
    Crow YJ. Type I interferonopathies: a novel set of inborn errors of immunity: type I interferonopathies. Ann N Y Acad Sci. 2011;1238(1):91–8.CrossRefGoogle Scholar
  5. 5.
    Kawai T, Akira S. The role of pattern-recognition receptors in innate immunity: update on Toll-like receptors. Nat Immunol. 2010;11(5):373–84.CrossRefGoogle Scholar
  6. 6.
    Rigby RE, Webb LM, Mackenzie KJ, Li Y, Leitch A, Reijns MAM, et al. RNA:DNA hybrids are a novel molecular pattern sensed by TLR9. EMBO J. 2014;33(6):542–58.CrossRefGoogle Scholar
  7. 7.
    Wu J, Chen ZJ. Innate immune sensing and signaling of cytosolic nucleic acids. Annu Rev Immunol. 2014;32(1):461–88.CrossRefGoogle Scholar
  8. 8.
    Kato H, Takahasi K, Fujita T. RIG-I-like receptors: cytoplasmic sensors for non-self RNA: RIG-I-like receptors. Immunol Rev. 2011;243(1):91–8.CrossRefGoogle Scholar
  9. 9.
    Sun L, Wu J, Du F, Chen X, Chen ZJ. Cyclic GMP-AMP synthase is a cytosolic DNA sensor that activates the type I interferon pathway. Science. 2013;339(6121):786–91.CrossRefGoogle Scholar
  10. 10.
    Picard C, Belot A. Les interféronopathies de type I. Mise au point et revue de la littérature. Rev Médecine Interne. 2018;39(4):271–8.CrossRefGoogle Scholar
  11. 11.
    Crow YJ, Manel N. Aicardi-Goutières syndrome and the type I interferonopathies. Nat Rev Immunol. 2015;15(7):429–40.CrossRefGoogle Scholar
  12. 12.
    Lee-Kirsch MA, Gong M, Chowdhury D, Senenko L, Engel K, Lee Y-A, et al. Mutations in the gene encoding the 3′–5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet. 2007;39(9):1065–7.CrossRefGoogle Scholar
  13. 13.
    Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, et al. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet. 2006;38(8):910–6.CrossRefGoogle Scholar
  14. 14.
    Ahmad S, Mu X, Yang F, Greenwald E, Park JW, Jacob E, et al. Breaching self-tolerance to Alu duplex RNA underlies MDA5-mediated inflammation. Cell. 2018;172(4):797–810.e13.CrossRefGoogle Scholar
  15. 15.
    François-Newton V, Magno de Freitas Almeida G, Payelle-Brogard B, Monneron D, Pichard-Garcia L, Piehler J, et al. USP18-based negative feedback control is induced by type I and type III interferons and specifically inactivates interferon α response. PLoS One. 2011;6(7):e22200.CrossRefGoogle Scholar
  16. 16.
    Crow YJ, Casanova J-L. STING-associated vasculopathy with onset in infancy—a new interferonopathy. N Engl J Med. 2014;371(6):568–71.CrossRefGoogle Scholar
  17. 17.
    Picard C, Thouvenin G, Kannengiesser C, Dubus J-C, Jeremiah N, Rieux-Laucat F, et al. Severe pulmonary fibrosis as the first manifestation of interferonopathy (TMEM173 mutation). Chest. 2016;150(3):e65–71.CrossRefGoogle Scholar
  18. 18.
    Briggs TA, Rice GI, Daly S, Urquhart J, Gornall H, Bader-Meunier B, et al. Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat Genet. 2011;43(2):127–31.CrossRefGoogle Scholar
  19. 19.
    Rutsch F, MacDougall M, Lu C, Buers I, Mamaeva O, Nitschke Y, et al. A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. Am J Hum Genet. 2015;96(2):275–82.CrossRefGoogle Scholar
  20. 20.
    Pascual V, Allantaz F, Arce E, Punaro M, Banchereau J. Role of interleukin-1 (IL-1) in the pathogenesis of systemic onset juvenile idiopathic arthritis and clinical response to IL-1 blockade. J Exp Med. 2005;201(9):1479–86.CrossRefGoogle Scholar
  21. 21.
    Rodero MP, Tesser A, Bartok E, Rice GI, Della Mina E, Depp M, et al. Type I interferon-mediated autoinflammation due to DNase II deficiency. Nat Commun. 2017;8(1):2176.CrossRefGoogle Scholar
  22. 22.
    Eckard SC, Rice GI, Fabre A, Badens C, Gray EE, Hartley JL, et al. The SKIV2L RNA exosome limits activation of the RIG-I-like receptors. Nat Immunol. 2014;15(9):839–45.CrossRefGoogle Scholar
  23. 23.
    Fabre A, Charroux B, Martinez-Vinson C, Roquelaure B, Odul E, Sayar E, et al. SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. Am J Hum Genet. 2012;90(4):689–92.CrossRefGoogle Scholar
  24. 24.
    Liu Y, Ramot Y, Torrelo A, Paller AS, Si N, Babay S, et al. Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity: mutations in PSMB8 cause Candle syndrome. Arthritis Rheum. 2012;64(3):895–907.CrossRefGoogle Scholar
  25. 25.
    Rice GI, Forte GMA, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, et al. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol. 2013;12(12):1159–69.CrossRefGoogle Scholar
  26. 26.
    Kim H, de Jesus AA, Brooks SR, Liu Y, Huang Y, VanTries R, et al. Development of a validated interferon score using NanoString technology. J Interferon Cytokine Res. 2018;38(4):171–85.CrossRefGoogle Scholar
  27. 27.
    Picard C, Belot A. Does type-I interferon drive systemic autoimmunity? Autoimmun Rev. 2017;16(9):897–902.CrossRefGoogle Scholar
  28. 28.
    Frémond M-L, Rodero MP, Jeremiah N, Belot A, Jeziorski E, Duffy D, et al. Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children. J Allergy Clin Immunol. 2016;138(6):1752–5.CrossRefGoogle Scholar
  29. 29.
    Winthrop KL. The emerging safety profile of JAK inhibitors in rheumatic disease. Nat Rev Rheumatol. 2017;13(4):234–43.CrossRefGoogle Scholar
  30. 30.
    Khamashta M, Merrill JT, Werth VP, Furie R, Kalunian K, Illei GG, et al. Sifalimumab, an anti-interferon-α monoclonal antibody, in moderate to severe systemic lupus erythematosus: a randomised, double-blind, placebo-controlled study. Ann Rheum Dis. 2016;75(11):1909–16.CrossRefGoogle Scholar
  31. 31.
    Rice GI, Meyzer C, Bouazza N, Hully M, Boddaert N, Semeraro M, et al. Reverse-transcriptase inhibitors in the aicardi–goutières syndrome. N Engl J Med. 2018;379(23):2275–7.  https://doi.org/10.1056/NEJMc1810983.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  • Cécile Frachette
    • 1
  • Rolando Cimaz
    • 2
    • 3
  • Alexandre Belot
    • 1
    • 4
    Email author
  1. 1.Pediatric Nephrology, Rheumatology, Dermatology Unit, Hospital Femme Mère Enfant, Hospices Civils de LyonUniversity of LyonLyonFrance
  2. 2.Department of Clinical Sciences and Community HealthUniversity of MilanoMilanoItaly
  3. 3.ASST-Gaetano PiniMilanoItaly
  4. 4.Innate Immunity in Infectious and Autoimmune DiseasesINSERM, U1111LyonFrance

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