Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes.
Niovi Setta-Kaffetzi,Alexander A. Navarini,Varsha M. Patel,Venu Pullabhatla,Andrew Pink,Siew Eng Choon,M Allen,A. David Burden,Christopher E.M. Griffiths,Marieke M B Seyger,Brian Kirby,Richard C. Trembath,Richard C. Trembath,Michael A. Simpson,Catherine H. Smith,Francesca Capon,Jonathan Barker +16 more
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This article is published in Journal of Investigative Dermatology.The article was published on 2013-05-01 and is currently open access. It has received 140 citations till now.read more
Citations
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Journal ArticleDOI
Cytokines in psoriasis
TL;DR: A number of cytokines have been therapeutically targeted with success, revolutionizing treatment of this disease and are reviewed here to suggest potential therapeutic targets.
Journal ArticleDOI
The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist.
Kazumitsu Sugiura,Akemi Takemoto,Michiya Yamaguchi,Hidetoshi Takahashi,Yukiko Shoda,Teruyuki Mitsuma,Kenshiro Tsuda,Emi Nishida,Yaei Togawa,Kimiko Nakajima,Akihiro Sakakibara,Shigeo Kawachi,Makoto Shimizu,Yasutomo Ito,Takuya Takeichi,Michihiro Kono,Yasushi Ogawa,Yoshinao Muro,Akemi Ishida-Yamamoto,Shigetoshi Sano,Hiroyuki Matsue,Akimichi Morita,Hitoshi Mizutani,Hajime Iizuka,Masahiko Muto,Masashi Akiyama +25 more
TL;DR: GPP alone is a distinct subtype of GPP and is etiologically distinguished from GPP with PV, and that the majority of G PP alone is caused by deficiency of the interleukin-36 receptor antagonist due to IL36RN mutations.
Journal ArticleDOI
IL-1 and IL-36 are dominant cytokines in generalized pustular psoriasis
Andrew Johnston,Xianying Xing,Liza Wolterink,Drew H. Barnes,Z. Yin,Z. Yin,Laura J. Reingold,J. Michelle Kahlenberg,Paul W. Harms,Johann E. Gudjonsson +9 more
TL;DR: Sustained activation of IL‐1 and IL‐36 in GPP is indicated, inducing neutrophil chemokine expression, infiltration, and pustule formation, suggesting that the IL-1/IL‐36 inflammatory axis is a potent driver of disease pathology in G PP.
Journal ArticleDOI
European Consensus Statement on Phenotypes of Pustular Psoriasis
Alexander A. Navarini,D Burden,Francesca Capon,Ulrich Mrowietz,Lluís Puig,Catherine H. Smith,J. Barker +6 more
TL;DR: This work presents initial considerations on the phenotypes of PP and a consensus classification of clinical phenotypes that will be used as a baseline for further, prospective studies of PP.
Journal ArticleDOI
Clinical and genetic differences between pustular psoriasis subtypes
Sophie Twelves,Alshimaa Mostafa,Alshimaa Mostafa,Nick Dand,Elias Burri,Katalin Farkas,Rosemary Wilson,Hywel L Cooper,Alan D. Irvine,Hazel H Oon,Külli Kingo,Sulev Kõks,Ulrich Mrowietz,Luis Puig,Nick J. Reynolds,Eugene Sern Ting Tan,Adrian Tanew,Kaspar Torz,Hannes Trattner,Mark C Valentine,Shyamal Wahie,Richard B. Warren,Andrew Wright,Zsuzsa Bata-Csörgő,Márta Széll,Christopher E.M. Griffiths,A. David Burden,Siew Eng Choon,Catherine H. Smith,Jonathan Barker,Alexander A. Navarini,Francesca Capon +31 more
TL;DR: In this paper, the authors sought to characterize the clinical and genetic features of pustular psoriasis through the analysis of an extended patient cohort, including 863 unrelated patients (251 with GPP, 560 with PPP, 28 with acrodermatitis continua of Hallopeau [ACH], and 24 with multiple diagnoses).
References
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Ivan Adzhubei,Steffen Schmidt,Leonid Peshkin,Vasily Ramensky,Anna Gerasimova,Peer Bork,Alexey S. Kondrashov,Shamil R. Sunyaev +7 more
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Journal ArticleDOI
Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis
Slaheddine Marrakchi,Philippe Guigue,Blair R. Renshaw,Anne Puel,Xue-Yuan Pei,Sylvie Fraitag,Jihen Zribi,Elodie Bal,Céline Cluzeau,Maya Chrabieh,Jennifer E. Towne,Jason Douangpanya,Christian Pons,Sourour Mansour,Valérie Serre,Hafedh Makni,Nadia Mahfoudh,Faiza Fakhfakh,Christine Bodemer,Josué Feingold,Smail Hadj-Rabia,Michel Favre,Emmanuelle Génin,Mourad Sahbatou,Arnold Munnich,Jean-Laurent Casanova,John E. Sims,Hamida Turki,Hervé Bachelez,Asma Smahi +29 more
TL;DR: Aberrant interleukin-36Ra structure and function lead to unregulated secretion of inflammatory cytokines and generalized pustular psoriasis.
Journal ArticleDOI
Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis
Alexandros Onoufriadis,Michael A. Simpson,Andrew Pink,Paola Di Meglio,Catherine H. Smith,Venu Pullabhatla,Jo Knight,Sarah L. Spain,Frank O. Nestle,A. David Burden,Francesca Capon,Richard C. Trembath,Jonathan Barker +12 more
TL;DR: Findings suggest loss of function of IL36RN as the genetic basis of GPP and implicate innate immune dysregulation in this severe episodic inflammatory disease, thereby highlighting IL-1 signaling as a potential target for therapeutic intervention.
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Autoinflammatory Disease Reloaded: A Clinical Perspective
TL;DR: It is suggested that the definition of what constitutes an autoinflammatory disease should be reassessed and new opportunities for therapeutic intervention are offered.
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The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist.
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