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Rare Monogenic Causes of Periodic Fevers

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Periodic and Non-Periodic Fevers

Part of the book series: Rare Diseases of the Immune System ((RDIS))

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Abstract

Autoinflammatory disorders were first recognized nearly two decades ago as unique historical and physical features caused by dysregulation in the innate immune system. Since then, the application of the next-generation sequencing techniques have led to the identification of new monogenic disorders and help to understand the molecular link between disease-causing mutations and inflammation. Most of the newly identified syndromes are characterized by fever episodes and systemic inflammation. Specifically, pediatric rheumatologists are likely to be asked to evaluate patients with periodic or nonperiodic fever syndromes. It is important that they should be aware of the clinical, laboratory characteristics and treatment modalities of these rare autoinflammatory disorders. In this chapter, we review some of these monogenic autoinflammatory diseases, including Behçet-like autoinflammatory syndrome (AISBL), otulipenia, DIRA (deficiency of interleukin 1 receptor antagonist), and DITRA (deficiency of interleukin-36 receptor antagonist). We describe clinical features of these syndromes and further examine their molecular mechanisms and therapeutic options.

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Authors and Affiliations

  1. Division of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada

    Serife Gulmus

  2. Division of Paediatric Rheumatology, Department of Paediatrics, Schulich School of Medicine & Dentistry, University of Western Ontario, London, ON, Canada

    Roberta Berard & Erkan Demirkaya

Authors
  1. Serife Gulmus
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  2. Roberta Berard
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  3. Erkan Demirkaya
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Corresponding author

Correspondence to Erkan Demirkaya .

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Editors and Affiliations

  1. Department of Clinical Sciences and Community Health, University of Milano, Milano, Italy

    Rolando Cimaz

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Gulmus, S., Berard, R., Demirkaya, E. (2020). Rare Monogenic Causes of Periodic Fevers. In: Cimaz, R. (eds) Periodic and Non-Periodic Fevers. Rare Diseases of the Immune System. Springer, Cham. https://doi.org/10.1007/978-3-030-19055-2_15

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  • DOI: https://doi.org/10.1007/978-3-030-19055-2_15

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-19054-5

  • Online ISBN: 978-3-030-19055-2

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