{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T11:14:20Z","timestamp":1788261260446,"version":"build-2803163510"},"reference-count":52,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2020,4,30]],"date-time":"2020-04-30T00:00:00Z","timestamp":1588204800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["18H02832"],"award-info":[{"award-number":["18H02832"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["18K16058"],"award-info":[{"award-number":["18K16058"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["19gm0910002h0105"],"award-info":[{"award-number":["19gm0910002h0105"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP19ek0109281"],"award-info":[{"award-number":["JP19ek0109281"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP19ek0109295"],"award-info":[{"award-number":["JP19ek0109295"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"DOI":"10.3389\/fimmu.2020.00641","type":"journal-article","created":{"date-parts":[[2020,4,30]],"date-time":"2020-04-30T04:23:48Z","timestamp":1588220628000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":14,"title":["KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease"],"prefix":"10.3389","volume":"11","author":[{"given":"Takuya","family":"Takeichi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masashi","family":"Akiyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2020,4,30]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1111\/1346-8138.13243","article-title":"Inherited ichthyosis: non-syndromic forms","volume":"43","author":"Takeichi","year":"2016","journal-title":"J Dermatol."},{"key":"B2","doi-asserted-by":"publisher","first-page":"225","DOI":"10.2340\/0001555577225227","article-title":"Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK-syndrome): a rare, autosomal recessive disorder of keratohyaline formation?","volume":"77","author":"Vahlquist","year":"1997","journal-title":"Acta Derm Venereol."},{"key":"B3","doi-asserted-by":"publisher","first-page":"596","DOI":"10.1016\/j.ajhg.2010.02.018","article-title":"A single-nucleotide deletion in the POMP 5\u2032 UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis","volume":"86","author":"Dahlqvist","year":"2010","journal-title":"Am J Hum Genet."},{"key":"B4","doi-asserted-by":"publisher","first-page":"e154","DOI":"10.1111\/jdv.13898","article-title":"KLICK syndrome: recognizable phenotype and hot-spot POMP mutation","volume":"31","author":"Morice-Picard","year":"2017","journal-title":"J Eur Acad Dermatol Venereol."},{"key":"B5","doi-asserted-by":"publisher","first-page":"1445","DOI":"10.1111\/bjd.16318","article-title":"KLICK syndrome: an unusual phenotype","volume":"178","author":"Onnis","year":"2018","journal-title":"Br J Dermatol."},{"key":"B6","doi-asserted-by":"publisher","first-page":"1545","DOI":"10.1016\/j.jaci.2017.05.019","article-title":"Autoinflammatory keratinization diseases","volume":"140","author":"Akiyama","year":"2017","journal-title":"J Allergy Clin Immunol."},{"key":"B7","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1016\/j.jdermsci.2018.01.012","article-title":"Autoinflammatory keratinization diseases: An emerging concept encompassing various inflammatory keratinization disorders of the skin","volume":"90","author":"Akiyama","year":"2018","journal-title":"J Dermatol Sci."},{"key":"B8","doi-asserted-by":"publisher","first-page":"e125","DOI":"10.1111\/1346-8138.14666","article-title":"Familial or sporadic porokeratosis as an autoinflammatory keratinization disease","volume":"46","author":"Takeichi","year":"2019","journal-title":"J Dermatol."},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.18445","article-title":"A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease","author":"Takeichi","year":"2019","journal-title":"Br J Dermatol."},{"key":"B10","doi-asserted-by":"publisher","first-page":"1656","DOI":"10.1016\/j.jaci.2018.11.044","article-title":"Aberrant CARD14 function might cause defective barrier formation","volume":"143","author":"Murase","year":"2019","journal-title":"J Allergy Clin Immunol."},{"key":"B11","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1001\/jamadermatol.2016.3601","article-title":"Pityriasis rubra pilaris type V as an autoinflammatory disease by CARD14 mutations","volume":"153","author":"Takeichi","year":"2017","journal-title":"JAMA Dermatol."},{"key":"B12","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1001\/archderm.1989.01670130105016","article-title":"Congenital ichthyosiform dermatosis with linear keratotic flexural papules and sclerosing palmoplantar keratoderma","volume":"125","author":"Pujol","year":"1989","journal-title":"Arch Dermatol."},{"key":"B13","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1111\/j.1365-2133.2005.06790.x","article-title":"A new type of erythrokeratoderma, or KLICK syndrome?","volume":"153","author":"Pujol","year":"2005","journal-title":"Br J Dermatol."},{"key":"B14","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1111\/j.1365-2133.2005.06319.x","article-title":"A new type of erythrokeratoderma","volume":"152","author":"van Steensel","year":"2005","journal-title":"Br J Dermatol."},{"key":"B15","doi-asserted-by":"publisher","first-page":"342","DOI":"10.1016\/s0001-7310(06)73415-9","article-title":"[Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK syndrome)]","volume":"97","author":"Chaves","year":"2006","journal-title":"Actas Dermosifiliogr."},{"key":"B16","doi-asserted-by":"publisher","first-page":"1126","DOI":"10.1016\/j.ajhg.2018.04.010","article-title":"Heterozygous truncating variants in POMP escape nonsense-mediated decay and cause a unique immune dysregulatory syndrome","volume":"102","author":"Poli","year":"2018","journal-title":"Am J Hum Genet."},{"key":"B17","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1016\/j.cell.2011.12.030","article-title":"Immuno- and constitutive proteasome crystal structures reveal differences in substrate and inhibitor specificity","volume":"148","author":"Huber","year":"2012","journal-title":"Cell."},{"key":"B18","doi-asserted-by":"publisher","first-page":"441","DOI":"10.14348\/molcells.2017.0115","article-title":"Crosstalk and interplay between the ubiquitin-proteasome system and autophagy","volume":"40","author":"Ji","year":"2017","journal-title":"Mol Cells."},{"key":"B19","doi-asserted-by":"publisher","first-page":"613","DOI":"10.1016\/j.cell.2010.07.036","article-title":"Immunoproteasomes preserve protein homeostasis upon interferon-induced oxidative stress","volume":"142","author":"Seifert","year":"2010","journal-title":"Cell."},{"key":"B20","doi-asserted-by":"publisher","first-page":"e29471","DOI":"10.1371\/journal.pone.0029471","article-title":"siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis","volume":"7","author":"Dahlqvist","year":"2012","journal-title":"PLoS ONE."},{"key":"B21","doi-asserted-by":"publisher","first-page":"141","DOI":"10.4161\/auto.5190","article-title":"Sorting, recognition and activation of the misfolded protein degradation pathways through macroautophagy and the proteasome","volume":"4","author":"Ding","year":"2008","journal-title":"Autophagy."},{"key":"B22","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1016\/j.jdermsci.2012.12.002","article-title":"Unfolded protein response in keratinocytes: impact on normal and abnormal keratinization","volume":"69","author":"Sugiura","year":"2013","journal-title":"J Dermatol Sci."},{"key":"B23","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1111\/febs.14739","article-title":"Insights into the role of endoplasmic reticulum stress in skin function and associated diseases","volume":"286","author":"Park","year":"2019","journal-title":"FEBS J."},{"key":"B24","doi-asserted-by":"publisher","first-page":"4196","DOI":"10.1172\/JCI81260","article-title":"Additive loss-of-function proteasome subunit mutations in CANDLE\/PRAAS patients promote type I IFN production","volume":"125","author":"Brehm","year":"2015","journal-title":"J Clin Invest."},{"key":"B25","doi-asserted-by":"publisher","first-page":"866","DOI":"10.1016\/j.ajhg.2010.10.031","article-title":"PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome","volume":"87","author":"Agarwal","year":"2010","journal-title":"Am J Hum Genet."},{"key":"B26","doi-asserted-by":"publisher","first-page":"197","DOI":"10.2332\/allergolint.11-RAI-0416","article-title":"Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy","volume":"61","author":"Kanazawa","year":"2012","journal-title":"Allergol Int."},{"key":"B27","doi-asserted-by":"publisher","first-page":"14914","DOI":"10.1073\/pnas.1106015108","article-title":"Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome","volume":"108","author":"Arima","year":"2011","journal-title":"Proc Natl Acad Sci USA."},{"key":"B28","doi-asserted-by":"publisher","first-page":"927","DOI":"10.3389\/fimmu.2017.00927","article-title":"CANDLE Syndrome As a Paradigm of Proteasome-Related Autoinflammation","volume":"8","author":"Torrelo","year":"2017","journal-title":"Front Immunol."},{"key":"B29","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2019.11.024","article-title":"PSMB10, the last immunoproteasome gene missing for PRAAS","author":"Sarrabay","year":"2019","journal-title":"J Allergy Clin Immunol."},{"key":"B30","doi-asserted-by":"publisher","first-page":"9241","DOI":"10.1073\/pnas.0501711102","article-title":"IFN-gamma-induced immune adaptation of the proteasome system is an accelerated and transient response","volume":"102","author":"Heink","year":"2005","journal-title":"Proc Natl Acad Sci USA."},{"key":"B31","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1038\/353357a0","article-title":"A proteasome-related gene between the two ABC transporter loci in the class II region of the human MHC","volume":"353","author":"Glynne","year":"1991","journal-title":"Nature."},{"key":"B32","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1016\/j.cell.2016.09.001","article-title":"Germline NLRP1 mutations cause skin inflammatory and cancer susceptibility syndromes via inflammasome activation","volume":"167","author":"Zhong","year":"2016","journal-title":"Cell."},{"key":"B33","doi-asserted-by":"publisher","first-page":"1191","DOI":"10.1136\/annrheumdis-2016-210021","article-title":"A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis)","volume":"76","author":"Grandemange","year":"2017","journal-title":"Ann Rheum Dis."},{"key":"B34","doi-asserted-by":"publisher","first-page":"19055","DOI":"10.1073\/pnas.1906184116","article-title":"Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis","volume":"116","author":"Drutman","year":"2019","journal-title":"Proc Natl Acad Sci U S A."},{"key":"B35","doi-asserted-by":"publisher","first-page":"1156","DOI":"10.1038\/ng.2409","article-title":"Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis","volume":"44","author":"Zhang","year":"2012","journal-title":"Nat Genet."},{"key":"B36","doi-asserted-by":"publisher","first-page":"1065","DOI":"10.1126\/science.1196284","article-title":"Gamma-secretase gene mutations in familial acne inversa","volume":"330","author":"Wang","year":"2010","journal-title":"Science."},{"key":"B37","doi-asserted-by":"publisher","first-page":"892","DOI":"10.3389\/fimmu.2019.00892","article-title":"An integrated approach to unravel hidradenitis suppurativa etiopathogenesis","volume":"10","author":"Tricarico","year":"2019","journal-title":"Front Immunol."},{"key":"B38","doi-asserted-by":"publisher","first-page":"1953","DOI":"10.1016\/j.jaci.2018.01.010","article-title":"Hidradenitis suppurativa as an autoinflammatory keratinization disease","volume":"141","author":"De Vita","year":"2018","journal-title":"J Allergy Clin Immunol."},{"key":"B39","doi-asserted-by":"publisher","first-page":"1588","DOI":"10.1111\/bjd.15226","article-title":"Autoinflammation in pyoderma gangrenosum and its syndromic form (pyoderma gangrenosum, acne and suppurative hidradenitis)","volume":"176","author":"Marzano","year":"2017","journal-title":"Br J Dermatol."},{"key":"B40","doi-asserted-by":"publisher","first-page":"e187","DOI":"10.1097\/MD.0000000000000187","article-title":"Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseases","volume":"93","author":"Marzano","year":"2014","journal-title":"Medicine."},{"key":"B41","doi-asserted-by":"publisher","first-page":"2042","DOI":"10.1172\/JCI98446","article-title":"ASK1\/2 signaling promotes inflammation in a mouse model of neutrophilic dermatosis","volume":"128","author":"Tartey","year":"2018","journal-title":"J Clin Invest."},{"key":"B42","doi-asserted-by":"publisher","first-page":"1434","DOI":"10.1016\/j.ajpath.2010.12.035","article-title":"Alteration in the gene encoding protein tyrosine phosphatase nonreceptor type 6 (PTPN6\/SHP1) may contribute to neutrophilic dermatoses","volume":"178","author":"Nesterovitch","year":"2011","journal-title":"Am J Pathol."},{"key":"B43","doi-asserted-by":"publisher","first-page":"1701","DOI":"10.1016\/j.ajpath.2010.12.053","article-title":"Spontaneous insertion of a b2 element in the ptpn6 gene drives a systemic autoinflammatory disease in mice resembling neutrophilic dermatosis in humans","volume":"178","author":"Nesterovitch","year":"2011","journal-title":"Am J Pathol."},{"key":"B44","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1038\/nature12174","article-title":"RIP1-driven autoinflammation targets IL-1alpha independently of inflammasomes and RIP3","volume":"498","author":"Lukens","year":"2013","journal-title":"Nature."},{"key":"B45","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1016\/j.jaci.2016.07.019","article-title":"An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis","volume":"139","author":"Paller","year":"2017","journal-title":"J Allergy Clin Immunol."},{"key":"B46","doi-asserted-by":"publisher","first-page":"604","DOI":"10.1016\/j.jaci.2018.03.021","article-title":"Ichthyosis molecular fingerprinting shows profound TH17 skewing and a unique barrier genomic signature","volume":"143","author":"Malik","year":"2019","journal-title":"J Allergy Clin Immunol."},{"key":"B47","doi-asserted-by":"publisher","first-page":"550","DOI":"10.1016\/j.jdcr.2017.07.019","article-title":"Infliximab therapy for Netherton syndrome: A case report","volume":"3","author":"Roda","year":"2017","journal-title":"JAAD Case Rep."},{"key":"B48","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1007\/s40257-019-00492-0","article-title":"Generalized pustular psoriasis: clinical management and update on autoinflammatory aspects","volume":"21","author":"Takeichi","year":"2020","journal-title":"Am J Clin Dermatol."},{"key":"B49","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1016\/j.jaad.2009.11.020","article-title":"Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009","volume":"63","author":"Oji","year":"2010","journal-title":"J Am Acad Dermatol."},{"key":"B50","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1016\/j.jdermsci.2018.08.008","article-title":"Cross-sectional survey on disease severity in Japanese patients with harlequin ichthyosis\/ichthyosis: Syndromic forms and quality-of-life analysis in a subgroup","volume":"92","author":"Murase","year":"2018","journal-title":"J Dermatol Sci."},{"key":"B51","doi-asserted-by":"publisher","first-page":"829","DOI":"10.1038\/ncb3184","article-title":"Proteostasis control by the unfolded protein response","volume":"17","author":"Hetz","year":"2015","journal-title":"Nat Cell Biol."},{"key":"B52","doi-asserted-by":"publisher","first-page":"335","DOI":"10.1007\/s00281-015-0496-2","article-title":"Protein misfolding and dysregulated protein homeostasis in autoinflammatory diseases and beyond","volume":"37","author":"Agyemang","year":"2015","journal-title":"Semin Immunopathol."}],"container-title":["Frontiers in Immunology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fimmu.2020.00641\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,4,30]],"date-time":"2020-04-30T04:23:50Z","timestamp":1588220630000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fimmu.2020.00641\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,30]]},"references-count":52,"alternative-id":["10.3389\/fimmu.2020.00641"],"URL":"https:\/\/doi.org\/10.3389\/fimmu.2020.00641","relation":{},"ISSN":["1664-3224"],"issn-type":[{"value":"1664-3224","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4,30]]},"article-number":"641"}}