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Type I Interferonopathies: from a Novel Concept to Targeted Therapeutics

  • Pediatric Rheumatology (S Ozen, Section Editor)
  • Published:
Current Rheumatology Reports Aims and scope Submit manuscript

Abstract

Purpose of the Review

Type I interferonopathies are monogenic autoinflammatory diseases induced by constitutive activation of type I interferon. Here, we provide an overview of these diseases and describe underlying molecular pathways, related phenotypes, suggestive clinical signs and investigations for helping diagnosis process and therapeutic management.

Recent Findings

Recent genetic and functional discoveries have enabled deciphering mechanisms involved in the pathogenesis of the type I interferonopathies and considering promising targeted treatments, such as JAK inhibitors, both for monogenic and multifactorial interferon-related diseases.

Summary

The concept of the type I interferonopathies rests on the assumption that some diseases arise from a disturbance of interferon signalling pathway. In the presence of suggestive clinical signs (especially involving the central nervous system and the skin), a consistent positive type I interferon assessment is a further point in favour of genetic investigations in patients. This review also highlights the potential value of targeted therapeutics that should improve features of type I interferonopathies, thereby providing a validation of the underlying hypothesis.

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Acknowledgements

We thank Yanick J Crow, Brigitte Bader-Meunier and Bénédicte Neven for their insights, expert assistance and the pictures they have provided.

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Authors and Affiliations

  1. Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, Paris, France

    Isabelle Melki & Marie-Louise Frémond

  2. General Paediatrics, Infectious Disease and Internal Medicine Department, Hôpital Robert Debré, AP-HP, Paris, France

    Isabelle Melki

  3. Paediatric Haematology-Immunology and Rheumatology Department, Hôpital Necker-Enfants Malades, AP-HP, Paris, France

    Isabelle Melki

  4. Reference centre for Rheumatic, AutoImmune and Systemic diseases in childrEn (RAISE), Paris, France

    Isabelle Melki

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  1. Isabelle Melki
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Melki, I., Frémond, ML. Type I Interferonopathies: from a Novel Concept to Targeted Therapeutics. Curr Rheumatol Rep 22, 32 (2020). https://doi.org/10.1007/s11926-020-00909-4

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