Dermatologic Manifestations of Monogenic Autoinflammatory Diseases

Kyawt Win Shwin, Chyi Chia Richard Lee, Raphaela Goldbach-Mansky

Research output: Contribution to journalReview articlepeer-review

28 Scopus citations


Autoinflammatory disorders are sterile inflammatory conditions characterized by episodes of early-onset fever, rash, and disease-specific patterns of organ inflammation. Gain-of-function mutations in innate danger-sensing pathways, including the inflammasomes and the nucleic acid sensing pathways, play critical roles in the pathogenesis of IL-1 and Type-I IFN-mediated disorders and point to an important role of excessive proinflammatory cytokine signaling, including interleukin (IL)-1b, Type-I interferons, IL-18, TNF and others in causing the organ specific immune dysregulation. The article discusses the concept of targeting proinflammatory cytokines and their signaling pathways with cytokine blocking treatments that have been life changing for some patients.

Original languageEnglish (US)
Pages (from-to)21-38
Number of pages18
JournalDermatologic Clinics
Issue number1
StatePublished - Jan 1 2017


  • Autoinflammatory disorders
  • IL-1
  • Immune dysregulation
  • Neutrophilic dermatoses
  • Panniculitis
  • Type I interferon
  • urticaria

ASJC Scopus subject areas

  • Dermatology


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