Letter to the EditorNovel IL36RN gene mutation revealed by analysis of 8 Japanese patients with generalized pustular psoriasis
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Acknowledgments
We thank all the individuals who participated in the study. We also thank M.T. Shimizu, H. Sekiguchi, A.I. Jodo, N. Kawaraichi and the technical staff of the Center for Genomic Medicine for providing technical assistance. This work was supported by Health Science Research Grants from the Ministry of Health, Welfare and Labor of Japan and the Ministry of Education, Culture, Sports, Science and Technology, Japan.
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Cited by (21)
In Silico and In Vitro Analysis of IL36RN Alterations Reveals Critical Residues for the Function of the Interleukin-36 Receptor Complex
2023, Journal of Investigative DermatologyVariants at HLA-A, HLA-C, and HLA-DQB1 Confer Risk of Psoriasis Vulgaris in Japanese
2018, Journal of Investigative DermatologyCitation Excerpt :The functional annotation of these loci implicated biological pathways related to disease biology of PsV including IL signaling and an NF-κB pathway (Tang et al., 2014; Tsoi et al., 2015, 2017; Sheng et al., 2014; Yin et al., 2015; Zuo et al., 2015). In addition to the common single nucleotide polymorphisms (SNPs) identified by GWAS, rare mutations associated with familial forms of PsV were detected by sequence analyses (Hayashi et al., 2014; Jordan et al., 2012). As observed in other immune-related diseases, the major histocompatibility complex (MHC) region at 6p21 confers the strongest genetic risk of PsV.
Clinical profiles of pediatric patients with GPP alone and with different IL36RN genotypes
2017, Journal of Dermatological ScienceCitation Excerpt :Recently, the significant association between homozygous/compound heterozygous IL36RN mutation and GPP alone has been highlighted, which indicates GPP alone is etiologically different from GPP with psoriasis vulgaris (PV) and from PV [4–6]. However, reports of GPP without a previous history of PV in patients with the wild genotype of IL36RN have made the pathogenesis controversial [7,8]. Our group aimed to clarify the differences in clinical profiles of pediatric patients with GPP alone, with and without IL36RN mutation.
A newly revealed IL36RN mutation in sibling cases complements our IL36RN mutation statistics for generalized pustular psoriasis
2017, Journal of Dermatological ScienceIL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases
2016, Journal of Investigative DermatologyCitation Excerpt :As mentioned above, the genotype-phenotype correlation attempt in family 1 emphasizes the complexity of disease expression and highlights the need for long-term follow-up in pustular diseases associated with IL36RN mutations to accurately assess overall disease course characteristics. Since the completion of the current study, other IL36RN mutations have been identified in a large panel of patients with different pustular phenotypes, and heterozygous mutations in another innate immune gene, CARD14, have been characterized in some patients with palmoplantar pustular psoriasis (Ellingford et al., 2016; Hayashi et al., 2014; Mössner et al., 2015). Therefore, investigations of larger cohorts correlating extensive genotyping with functional studies and clinical expression are warranted to disentangle the respective roles of genetic, epigenetic, and environmental factors that may influence clinical expression of different and common genotypes.
One SNP at a Time: Moving beyond GWAS in Psoriasis
2016, Journal of Investigative DermatologyCitation Excerpt :Subsequent well-powered studies will be required to determine how an increasing age of onset affects the strength of these genetic associations. The genetic architecture of psoriasis subtypes are gradually being defined; for example, generalized pustular psoriasis (GPP) is associated with protein-coding mutations in CARD14 (Jordan et al., 2012b; Qin et al., 2014; Sugiura et al., 2014) and IL36RN (Hayashi et al., 2014; Korber et al., 2013; M Li et al., 2013; Sugiura et al., 2013). In CARD14, the de novo mutation p.Glu138Ala was found in a child with GPP (Jordan et al., 2012b), and the rare variant p.Asp176His was shown to predispose to GPP with plaque psoriasis in Japanese patients (Sugiura et al., 2014).
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These authors contributed equally to this article.