Mutations in IL36RN in Patients with Generalized Pustular Psoriasis

Körber, Andreas; Mößner, Rotraut; Renner, Regina; Sticht, Heinrich; Wilsmann‐Theis, Dagmar; Schulz, Peter J.; Sticherling, Michael; Traupe, Heiko; Hüffmeier, Ulrike

doi:10.1038/jid.2013.214

Cited by 94 publications

(101 citation statements)

References 13 publications

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“…Also, 82% of GPP patients who did not suffer from concomitant PV had mutations in IL36RN compared to 10% of those affected by GPP with PV [14]. The same pattern was confirmed by a European study finding IL36RN mutations in 46% of GPP patients without PV and 17% in GPP with PV [15]. Finally, an interesting study from China found that about 93% of patients with GPP and features of ACH had a damaging IL36RN mutation [16].…”

Section: Accepted Articlesupporting

confidence: 66%

442 European consensus statement on phenotypes of pustular psoriasis

Navarini¹,

Burden²,

Capon³

et al. 2016

Journal of Investigative Dermatology

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Pustular psoriasis (PP) is a group of inflammatory skin conditions characterized by infiltration of neutrophil granulocytes in the epidermis to such an extent that clinically visible sterile pustules develop. Because of clinical co-incidence, PP is currently grouped with psoriasis vulgaris (PV). However, PP and PV are phenotypically different, respond differently to treatments, and seem to be distinct on the genetic level. In contrast to PV, the phenotypes of PP are not well defined. Descriptions of each form of PP are discordant among standard dermatology textbooks [1][2][3][4][5], encumbering the collection of phenotypically well-matched groups of patients as well as clinical trials.

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Section: Accepted Articlesupporting

confidence: 66%

442 European consensus statement on phenotypes of pustular psoriasis

Navarini¹,

Burden²,

Capon³

et al. 2016

Journal of Investigative Dermatology

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“…Since then, several studies have reported associations of CARD14 variants with psoriasis vulgaris, psoriatic arthritis, generalized pustular psoriasis, and palmoplantar pustular psoriasis (Ammar et al, 2013(Ammar et al, , 2016Eskin-Schwartz et al, 2016;Feng et al, 2016;Gonzalez-Lara et al, 2013;Inoue et al, 2016;Korber et al, 2013;Mossner et al, 2015;Qin et al, 2014;Sugiura et al, 2014Sugiura et al, , 2015Zhu et al, 2016). Furthermore, CARD14 variants have also been associated with pityriasis rubra pilaris, a distinct inflammatory skin disease characterized by keratotic follicular papules and salmon-colored erythematous plaques (Eytan et al, 2014;Fuchs-Telem et al, 2012;Has et al, 2016;Inoue et al, 2016;Li et al, 2015).…”

Section: Card14 Variants In Psoriasismentioning

confidence: 94%

CARD14-Mediated Activation of Paracaspase MALT1 in Keratinocytes: Implications for Psoriasis

Nuffel

Schmitt

Afonina

et al. 2017

Journal of Investigative Dermatology

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Mutations in caspase recruitment domain-containing protein 14(CARD14) have been linked to susceptibility to psoriasis. CARD14 is an intracellular scaffold protein that regulates proinflammatory gene expression. Recent studies have offered novel insights into the mechanisms of CARD14-mediated signaling in keratinocytes and the molecular impact of psoriasis-associated CARD14 mutations. CARD14 forms a signaling complex with BCL10 and the paracaspase MALT1, and this process is enhanced upon pathogenic CARD14 mutation, culminating in the activation of MALT1 protease activity and psoriasis-associated gene expression. This review summarizes the current knowledge of CARD14/MALT1-mediated signaling in keratinocytes and its therapeutic implications in psoriasis.

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“…2 Biologika sind bei der PPP nicht zugelassen und in Studien (sofern getestet) sowie in unserer Erfahrung deutlich schlechter wirksam als bei der Psoriasis vulgaris. Wir beobachten allerdings auch keine Exazerbation einer mit TNFBlockern therapierten PPP (wie es als paradoxe Reaktion denkbar wäre).…”

Section: Introductionunclassified

“…Bei einem Teil der Patienten mit GPP (v. a. bei familiär auftretender GPP und sporadisch auftretender GPP ohne Psoriasisanamnese) liegt eine genetische Assoziation mit Varianten des Interleukin-36RN-Gens (IL36RN) vor, das IL-36Ra kodiert [1][2][3]. IL36Ra ist ein Antagonist von 3 proinflammatorischen Zytokinen der IL-1-Familie (IL-36α, IL-36β, IL-36γ).…”

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Pustulöse Psoriasis

et al. 2016

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A number of pustular skin diseases share clinical, pathogenetic, and epidemiological aspects with plaque-type psoriasis, and their classification as a separate clinical entity or as a subtype of psoriasis remains controversial, which is also reflected in the multitude of their names. They include generalized pustular psoriasis with its subtypes, acrodermatitis continua suppurativa (Hallopeau), acute pustulosis palmopantaris, palmoplantar pustular psoriasis, and pustular variants of a mostly TNF-blocker triggered paradoxical psoriasiform dermatitis. In this article, the epidemiology, clinical picture, pathogenesis, genetics, and therapy of these pustular skin diseases are described.

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Mutations in IL36RN in Patients with Generalized Pustular Psoriasis

Cited by 94 publications

References 13 publications

442 European consensus statement on phenotypes of pustular psoriasis

442 European consensus statement on phenotypes of pustular psoriasis

CARD14-Mediated Activation of Paracaspase MALT1 in Keratinocytes: Implications for Psoriasis

Pustulöse Psoriasis

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