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Deficiency of the Interleukin-36 Receptor Antagonist (DITRA) and Generalized Pustular Psoriasis

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Auto-Inflammatory Syndromes

Abstract

Deficiency of the interleukin-36 receptor antagonist, DITRA, and generalized pustular psoriasis are life-threatening diseases characterized by a disseminated dermatitis, pustular psoriasis, systemic inflammation with fever, joint pain with swelling, severe liver dysfunction with neutrophilic or sclerosing cholangitis, uveitis, iritis, conjunctivitis, renal dysfunction with oliguric and renal failure, neutrophilic pneumonitis, acute respiratory distress syndrome, electrolyte imbalance, and death by sepsis. DITRA has been linked to loss-of-function recessive mutations in the interleukin-36 receptor antagonist IL23RN locus. The mutations encode for an unstable protein with poor interaction with its receptor allowing for an unopposed effect of IL-36 that results in enhanced production of pro-inflammatory cytokines and systemic inflammation.

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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-36 Receptor Antagonist (DITRA) and Generalized Pustular Psoriasis. In: Efthimiou, P. (eds) Auto-Inflammatory Syndromes. Springer, Cham. https://doi.org/10.1007/978-3-319-96929-9_7

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  • DOI: https://doi.org/10.1007/978-3-319-96929-9_7

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  • Publisher Name: Springer, Cham

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