A viewpoint on the genetic determinants of generalised pustular psoriasis

Francesca Capon*

*Corresponding author for this work

Research output: Contribution to journalComment/debatepeer-review

5 Citations (Scopus)

Abstract

Generalised pustular psoriasis (GPP) is a rare and severe neutrophilic skin disorder, manifesting with acute episodes of pustulation and systemic upset. The discovery of recessive IL36RN mutations associated with GPP has transformed our understanding of disease drivers, paving the way for the development of targeted anti-IL36 therapeutics. In the light of these remarkable successes, this viewpoint reviews the significance of IL36RN mutations in GPP, their functional impact and their correlation with clinical phenotypes. It then covers the discovery of further genetic determinants (recessive MPO mutations) and risk factors (AP1S3 and CARD14 low-frequency variants) for the disease. It discusses the growing evidence for genetic complexity in GPP and concludes by outlining collaborative strategies that may be adopted to overcome the challenges ahead.

Original languageEnglish
Pages (from-to)1188-1193
Number of pages6
JournalExperimental Dermatology
Volume32
Issue number8
Early online date16 Jan 2023
DOIs
Publication statusPublished - Aug 2023

Keywords

  • generalised pustular psoriasis
  • IL-36
  • IL36RN
  • MPO

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