A viewpoint on the genetic determinants of generalised pustular psoriasis

Francesca Capon

doi:10.1111/exd.14746

A viewpoint on the genetic determinants of generalised pustular psoriasis

Francesca Capon^*

^*Corresponding author for this work

Medical & Molecular Genetics

Research output: Contribution to journal › Comment/debate › peer-review

7 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 language	English
Pages (from-to)	1188-1193
Number of pages	6
Journal	Experimental Dermatology
Volume	32
Issue number	8
Early online date	16 Jan 2023
DOIs	https://doi.org/10.1111/exd.14746
Publication status	Published - Aug 2023

Keywords

generalised pustular psoriasis
IL-36
IL36RN
MPO

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10.1111/exd.14746

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title = "A viewpoint on the genetic determinants of generalised pustular psoriasis",

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.",

keywords = "generalised pustular psoriasis, IL-36, IL36RN, MPO",

author = "Francesca Capon",

note = "Funding Information: No external funders were involved in this work. Publisher Copyright: {\textcopyright} 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.",

year = "2023",

month = aug,

doi = "10.1111/exd.14746",

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AU - Capon, Francesca

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N2 - 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.

AB - 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.

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JO - Experimental Dermatology

JF - Experimental Dermatology

IS - 8

ER -

A viewpoint on the genetic determinants of generalised pustular psoriasis

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