Letter to the Editor
Novel IL36RN gene mutation revealed by analysis of 8 Japanese patients with generalized pustular psoriasis

https://doi.org/10.1016/j.jdermsci.2014.10.008Get rights and content

Section snippets

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.

References (10)

  • N. Kanazawa et al.

    Novel IL36RN mutation in a Japanese case of early onset generalized pustular psoriasis

    J Dermatol

    (2013)
  • S. Marrakchi et al.

    Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis

    N Engl J Med

    (2011)
  • A. Onoufriadis et al.

    Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis

    Am J Hum Genet

    (2011)
  • K. Sugiura et al.

    A novel IL36RN/IL1F5 homozygous nonsense mutation, p.Arg10X, in a Japanese patients with adult-onset generalized pustular psoriasis

    Br J Dermatol

    (2012)
  • M. Farooq et al.

    Mutation analysis of the IL36RN gene in 14 Japanese patients with generalized pustular psoriasis

    Hum Mutat

    (2012)
There are more references available in the full text version of this article.

Cited by (21)

  • Variants at HLA-A, HLA-C, and HLA-DQB1 Confer Risk of Psoriasis Vulgaris in Japanese

    2018, Journal of Investigative Dermatology
    Citation 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 Science
    Citation 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.

  • IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases

    2016, Journal of Investigative Dermatology
    Citation 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 Dermatology
    Citation 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).

View all citing articles on Scopus
1

These authors contributed equally to this article.

View full text