Mutation analysis of IL36RN in a Chinese Daur family with generalized pustular psoriasis

Shen, Dan; Jin, Hongzhong

doi:10.1684/ejd.2014.2382

Cited by 3 publications

(1 citation statement)

References 7 publications

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“…The most common mutant genotype in Asian GPP patients from China, Japan, and Malaysia is c.115+6T>C 16, 17, 19. One patient (2.0%) in the current study and seven of 168 (4.2%) healthy controls in a previous study by the present authors harbored this heterozygous variant 20 . Furthermore, Li et al found that the frequency of c.115+6T>C was 3.6% in healthy controls and 1.8% in psoriasis vulgaris patients, higher than that in the PPP group of the current study 17 …”

Section: Discussionsupporting

confidence: 48%

Lack of association between mutation in IL36RN and palmoplantar pustular psoriasis in Chinese patients

Shen

Jin

2019

Anais Brasileiros de Dermatologia

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BackgroundPalmoplantar pustulosis is considered to be a localized pustular psoriasis confined to the palms and soles. Mutation of the IL36RN gene, encoding interleukin-36 receptor antagonist (IL-36Ra), is associated with generalized pustular psoriasis, but IL36RN mutations in Chinese palmoplantar pustulosis patients have not previously been investigated.ObjectiveThe aim of this study was to evaluate the mutation of IL36RN in Chinese patients with palmoplantar pustulosis.MethodsFifty-one Han Chinese patients with palmoplantar pustulosis were recruited. All exons and exon-intron boundary sequences of IL36RN were amplified in polymerase chain reactions, and Sanger sequencing of the amplicons was performed.ResultsAmong the 51 palmoplantar pustulosis patients, four different single-base substitutions were identified in nine patients. The mutations were c.140A>G/p.Asn47Ser in five patients, c.258G>A/p.Met86IIe in two patients, and c.115+6T>C and c.169G>A/p.Val57IIe in one patient each. All mutations were heterozygous. Comparison with the human genome database and reported literature suggested that these variants may not be pathogenic mutations causing palmoplantar pustulosis. Furthermore, there was no difference in disease severity, onset age, or disease duration between patients with these heterozygous IL36RN variants and those without (p > 0.1).Study limitationLack of the further evaluation of IL36Ra protein in palmoplantar pustulosis lesions.ConclusionsThe four variants of IL36RN identified did not appear to be associated with the specific phenotypes of palmoplantar pustulosis.

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Section: Discussionsupporting

confidence: 48%

Lack of association between mutation in IL36RN and palmoplantar pustular psoriasis in Chinese patients

Shen

Jin

2019

Anais Brasileiros de Dermatologia

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Generation and functional characterization of anti-human and anti-mouse IL-36R antagonist monoclonal antibodies

Ganesan

Raymond

Mennerich

et al. 2017

mAbs

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Deficiency of interleukin (IL)-36 receptor antagonist (DITRA) syndrome is a rare autosomal recessive disease caused by mutations in IL36RN. IL-36R is a cell surface receptor and a member of the IL1R family that is involved in inflammatory responses triggered in skin and other epithelial tissues. Accumulating evidence suggests that IL-36R signaling may play a role in the pathogenesis of psoriasis. Therapeutic intervention of IL-36R signaling offers an innovative treatment paradigm for targeting epithelial cell-mediated inflammatory diseases such as the life-threatening psoriasis variant called generalized pustular psoriasis (GPP). We report the discovery and characterization of MAB92, a potent, high affinity anti-human IL-36 receptor antagonistic antibody that blocks human IL-36 ligand (α, β and γ)-mediated signaling. In vitro treatment with MAB92 directly inhibits human IL-36R-mediated signaling and inflammatory cytokine production in primary human keratinocytes and dermal fibroblasts. MAB92 shows exquisite species specificity toward human IL-36R and does not cross react to murine IL-36R. To enable in vivo pharmacology studies, we developed a mouse cross-reactive antibody, MAB04, which exhibits overlapping binding and pharmacological activity as MAB92. Epitope mapping indicates that MAB92 and MAB04 bind primarily to domain-2 of the human and mouse IL-36R proteins, respectively. Treatment with MAB04 abrogates imiquimod and IL-36-mediated skin inflammation in the mouse, further supporting an important role for IL-36R signaling in epithelial cell-mediated inflammation.

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Interleukin-1 Receptor-Like 2: One Receptor, Three Agonists, and Many Implications

Manzanares-Meza

Valle‐Rios²,

Medina-Contreras³

2022

Journal of Interferon & Cytokine Research

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Mutation analysis of IL36RN in a Chinese Daur family with generalized pustular psoriasis

Cited by 3 publications

References 7 publications

Lack of association between mutation in IL36RN and palmoplantar pustular psoriasis in Chinese patients

Lack of association between mutation in IL36RN and palmoplantar pustular psoriasis in Chinese patients

Generation and functional characterization of anti-human and anti-mouse IL-36R antagonist monoclonal antibodies

Interleukin-1 Receptor-Like 2: One Receptor, Three Agonists, and Many Implications

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