{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T02:52:51Z","timestamp":1783651971231,"version":"3.55.0"},"reference-count":9,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,10,26]],"date-time":"2017-10-26T00:00:00Z","timestamp":1508976000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100002429","name":"Amgen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002429","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004319","name":"Pfizer","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004319","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The identification of loss\u2010of\u2010function mutations of the <jats:italic><jats:styled-content style=\"fixed-case\">IL<\/jats:styled-content>36<jats:styled-content style=\"fixed-case\">RN<\/jats:styled-content><\/jats:italic> gene encoding the interleukin\u201036 receptor antagonist (<jats:styled-content style=\"fixed-case\">IL<\/jats:styled-content>\u201036Ra) in generalized pustular psoriasis (<jats:styled-content style=\"fixed-case\">GPP<\/jats:styled-content>) emphasized the key role of this pathway in skin innate immunity and systemic inflammation. It has been previously shown in vitro that removal of the N\u2010terminal amino acid <jats:styled-content style=\"fixed-case\">IL<\/jats:styled-content>36Ra (M1) is critical to its biological activity, but the in vivo contribution of this processing remains unknown. We report herein a new homozygous (c4G&gt;T, <jats:styled-content style=\"fixed-case\">pV<\/jats:styled-content>2F) missense <jats:italic><jats:styled-content style=\"fixed-case\">IL<\/jats:styled-content>36<jats:styled-content style=\"fixed-case\">RN<\/jats:styled-content><\/jats:italic> mutation segregating in a family with three <jats:styled-content style=\"fixed-case\">GPP<\/jats:styled-content>\u2010affected patients. The V2F mutation does not alter <jats:styled-content style=\"fixed-case\">IL<\/jats:styled-content>\u201036Ra protein expression but was devoid of any antagonist activity. Mass spectrometry showed that the V2F <jats:styled-content style=\"fixed-case\">IL<\/jats:styled-content>\u201036Ra mutant retains its first N\u2010terminal methionine. These results provide the first in vivo demonstration that removal of N\u2010terminal methionine of native <jats:styled-content style=\"fixed-case\">IL<\/jats:styled-content>\u201036Ra is a mandatory step to reach optimal antagonist activity and to prevent sustained skin and systemic inflammation in humans.<\/jats:p>","DOI":"10.1111\/exd.13387","type":"journal-article","created":{"date-parts":[[2017,6,12]],"date-time":"2017-06-12T04:52:41Z","timestamp":1497243161000},"page":"1114-1117","source":"Crossref","is-referenced-by-count":23,"title":["Mutation in <i><scp>IL<\/scp>36<scp>RN<\/scp><\/i> impairs the processing and regulatory function of the interleukin\u201036\u2010receptor antagonist and is associated with <scp>DITRA<\/scp> syndrome"],"prefix":"10.1111","volume":"28","author":[{"given":"Elodie","family":"Bal","sequence":"first","affiliation":[{"name":"Sorbonne Paris Cit\u00e9 IMAGINE Institute Necker Hospital, Enfants\u2010Malades UMR 1163, Paris\u2010Descartes University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ai Ching","family":"Lim","sequence":"additional","affiliation":[{"name":"Inflammation Research and Therapeutic Discovery Amgen Inc.  Seattle WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Shen","sequence":"additional","affiliation":[{"name":"Inflammation Research and Therapeutic Discovery Amgen Inc.  Seattle WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason","family":"Douangpanya","sequence":"additional","affiliation":[{"name":"Inflammation Research and Therapeutic Discovery Amgen Inc.  Seattle WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marine","family":"Madrange","sequence":"additional","affiliation":[{"name":"Sorbonne Paris Cit\u00e9 IMAGINE Institute Necker Hospital, Enfants\u2010Malades UMR 1163, Paris\u2010Descartes University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rihab","family":"Gazah","sequence":"additional","affiliation":[{"name":"Sorbonne Paris Cit\u00e9 IMAGINE Institute Necker Hospital, Enfants\u2010Malades UMR 1163, Paris\u2010Descartes University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Tauber","sequence":"additional","affiliation":[{"name":"Sorbonne Paris Cit\u00e9 IMAGINE Institute Necker Hospital, Enfants\u2010Malades UMR 1163, Paris\u2010Descartes University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Walid","family":"Beghdadi","sequence":"additional","affiliation":[{"name":"Clinical Research Unit APHP Saint\u2010Louis Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean Laurent","family":"Casanova","sequence":"additional","affiliation":[{"name":"Rockefeller Branch St. Giles Laboratory of Human Genetics of Infectious Diseases The Rockefeller University  New York NY USA"},{"name":"Necker Branch Laboratory of Human Genetics of Infectious Diseases Sorbonne Paris Cit\u00e9 IMAGINE Institute Necker Hospital, Enfants\u2010Malades UMR 1163, Paris\u2010Descartes University  Paris France"},{"name":"Pediatric Hematology\u2010Immunology\u2010Rheumatology Unit AP\u2010HP, Necker Enfants Malades Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Bourrat","sequence":"additional","affiliation":[{"name":"Sorbonne Paris Cit\u00e9 Paris Diderot University  Paris France"},{"name":"Department of Pediatrics APHP Robert Debr\u00e9 Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Herv\u00e9","family":"Bachelez","sequence":"additional","affiliation":[{"name":"Sorbonne Paris Cit\u00e9 IMAGINE Institute Necker Hospital, Enfants\u2010Malades UMR 1163, Paris\u2010Descartes University  Paris France"},{"name":"Sorbonne Paris Cit\u00e9 Paris Diderot University  Paris France"},{"name":"Department of Dermatology APHP, Saint\u2010Louis Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer E.","family":"Towne","sequence":"additional","affiliation":[{"name":"Inflammation Research and Therapeutic Discovery Amgen Inc.  Seattle WA USA"},{"name":"Moved to Janssen Research &amp; Development LLC  San Diego CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6002-0981","authenticated-orcid":false,"given":"Asma","family":"Smahi","sequence":"additional","affiliation":[{"name":"Sorbonne Paris Cit\u00e9 IMAGINE Institute Necker Hospital, Enfants\u2010Malades UMR 1163, Paris\u2010Descartes University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,10,26]]},"reference":[{"key":"e_1_2_1_9_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1013068"},{"key":"e_1_2_1_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2012.490"},{"key":"e_1_2_1_9_4_1","first-page":"1440","volume":"2001","author":"Debets R.","year":"1950","journal-title":"J. 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