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Deficiency of the Interleukin-1 Receptor Antagonist (DIRA)

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Auto-Inflammatory Syndromes

Abstract

Deficiency of the interleukin-1 receptor antagonist IL-1Ra (DIRA) is a very rare and severe autoinflammatory disease associated with loss of function mutations in the IL1RN gene. Inflammation results from unopposed signaling by IL-1α and IL-1β. DIRA presents mostly in the neonatal period with systemic inflammation and characteristic skin pustulosis and multifocal osteomyelitis. Other features include premature birth, fever, arthritis, ballooning of epiphysis, periostitis, widening of ribs, osteopenia, and less frequent internal organ involvement with CNS vasculitis, interstitial lung disease, large vein thrombosis, and hepatosplenomegaly. The severe inflammation can lead to respiratory distress and systemic inflammatory response syndrome with a 25% mortality. Long-term sequelae include joint contractures and deformities, muscle atrophy, growth retardation, and developmental delay. The disease is highly and rapidly responsive to IL-1 blockade.

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Authors and Affiliations

  1. Division of Rheumatology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA

    Arturo Diaz

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  1. Arturo Diaz
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Correspondence to Arturo Diaz .

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  1. New York University School of Medicine, New York, NY, USA

    Petros Efthimiou

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Diaz, A. (2019). Deficiency of the Interleukin-1 Receptor Antagonist (DIRA). In: Efthimiou, P. (eds) Auto-Inflammatory Syndromes. Springer, Cham. https://doi.org/10.1007/978-3-319-96929-9_6

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  • DOI: https://doi.org/10.1007/978-3-319-96929-9_6

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-96928-2

  • Online ISBN: 978-3-319-96929-9

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