Dermatologic Manifestations of Monogenic Autoinflammatory Diseases

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

Research output: Contribution to journalReview article

13 Citations (Scopus)

Abstract

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
Volume35
Issue number1
DOIs
StatePublished - Jan 1 2017

Fingerprint

Cytokines
Inflammasomes
Interferon Type I
Interleukin-18
Critical Pathways
Interleukins
Exanthema
Interleukin-1
Nucleic Acids
Fever
Inflammation
Mutation
Therapeutics

Keywords

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

ASJC Scopus subject areas

  • Dermatology

Cite this

Dermatologic Manifestations of Monogenic Autoinflammatory Diseases. / Shwin, Kyawt Win; Lee, Chyi Chia Richard; Goldbach-Mansky, Raphaela.

In: Dermatologic Clinics, Vol. 35, No. 1, 01.01.2017, p. 21-38.

Research output: Contribution to journalReview article

Shwin, Kyawt Win ; Lee, Chyi Chia Richard ; Goldbach-Mansky, Raphaela. / Dermatologic Manifestations of Monogenic Autoinflammatory Diseases. In: Dermatologic Clinics. 2017 ; Vol. 35, No. 1. pp. 21-38.
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