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

  • Arturo Diaz
Chapter

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.

Keywords

Autoinflammatory DITRA IL-36Ra deficiency IL-1 Pustular psoriasis 

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Division of RheumatologyBeth Israel Deaconess Medical Center, Harvard Medical SchoolBostonUSA

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