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Later, patients develop keloids on fingers and toes but are otherwise healthy. In a recently described family with OPDKD, we report the presence of a <jats:italic>de novo<\/jats:italic> c.770C\u2009&gt;\u2009T, p.(Thr257Ile) variant in <jats:italic>PELI2<\/jats:italic> in the affected individual. <jats:italic>PELI2<\/jats:italic> encodes for the E3 ubiquitin ligase Pellino\u20102. In transgenic U87MG cells overexpressing Pellino\u20102 with the p.(Thr257Ile) amino acid substitution, constitutive activation of the NLRP3 inflammasome was observed. However, the Thr257Ile variant did not affect Pellino\u20102 intracellular localization, its binding to known interaction partners, nor its stability. Our findings indicate that constitutive autoactivation of the NLRP3 inflammasome contributes to the development of <jats:italic>PELI2<\/jats:italic>\u2010associated OPDKD.<\/jats:p>","DOI":"10.1002\/1873-3468.14597","type":"journal-article","created":{"date-parts":[[2023,2,13]],"date-time":"2023-02-13T08:10:59Z","timestamp":1676275859000},"page":"1290-1299","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A Pellino\u20102 variant is associated with constitutive <scp>NLRP3<\/scp> inflammasome activation in a family with ocular pterygium\u2013digital keloid dysplasia"],"prefix":"10.1002","volume":"597","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1163-0393","authenticated-orcid":false,"given":"Ileana","family":"Cristea","sequence":"first","affiliation":[{"name":"Department of Clinical Medicine University of Bergen  Norway"},{"name":"Department of Ophthalmology Haukeland University Hospital  Bergen Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0276-2557","authenticated-orcid":false,"given":"Hugo","family":"Abarca","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica &amp; Errores Innatos del Metabolismo Instituto Nacional de Salud del Nino\u2010Bre\u00f1a  Lima Peru"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8552-1275","authenticated-orcid":false,"given":"Anne E.","family":"Christensen Mellgren","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine University of Bergen  Norway"},{"name":"Department of Ophthalmology Haukeland University Hospital  Bergen Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5254-0920","authenticated-orcid":false,"given":"Milana","family":"Trubnykova","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica &amp; Errores Innatos del Metabolismo Instituto Nacional de Salud del Nino\u2010Bre\u00f1a  Lima Peru"},{"name":"Facultad de Ciencias de la Salud Universidad Peruana de Ciencias Aplicadas  Lima Peru"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4090-5114","authenticated-orcid":false,"given":"Roya","family":"Mehrasa","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine University of Bergen  Norway"},{"name":"Department of Medical Genetics Haukeland University Hospital  Bergen Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6974-7143","authenticated-orcid":false,"given":"Dorien J. 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