{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T13:34:20Z","timestamp":1772112860890,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2023,5,17]],"date-time":"2023-05-17T00:00:00Z","timestamp":1684281600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Generalized pustular psoriasis (GPP) is a rare but severe form of psoriasis. An early onset of the diseases is correlated with mutations among <jats:italic>IL36RN<\/jats:italic>, <jats:italic>CARD14<\/jats:italic>, <jats:italic>AP1S3<\/jats:italic>, <jats:italic>MPO<\/jats:italic> and <jats:italic>SERPINA3<\/jats:italic> genes. Systemic biological agents including anti\u2010TNF\u2010\u03b1, anti\u2010IL\u201017, anti\u2010IL\u201012\/IL\u201023, anti\u2010IL1R, anti\u2010IL1\u03b2 and anti\u2010IL\u201036R act as novel treatment methods for GPP. Herein we report a female infant clinically diagnosed with GPP since she was 10\u2010month\u2010old. Results of whole\u2010exome sequencing (WES) and Sanger sequencing revealed a reported heterozygous <jats:italic>IL36RN<\/jats:italic> (c.115+6T&gt;C) and another reported heterozygous <jats:italic>SERPINA3<\/jats:italic> frame\u2010shifting variant (c.1247_1248del). Initial cyclosporin treatment for the patient led to a partial remission of the symptoms. However, the patient reached nearly total remission of pustules and erythema after anti\u2010TNF\u2010\u03b1 inhibitor etanercept treatment. Results of further RNA sequencing (RNA\u2010seq) done on peripheral blood mononuclear cells correlated with the clinical responses, showing that cyclosporin suppressed a portion of the neutrophil\u2010related genes, while most genes associated with neutrophil activation, neutrophil\u2010mediated immunity and degranulation were downregulated by the subsequent etanercept treatment. We report this case to demonstrate WES and RNA\u2010seq in combination could come in handy in reaching a precise diagnosis and in evaluating or even predicting the molecular alterations underlying clinical treatment effectiveness.<\/jats:p>","DOI":"10.1111\/exd.14835","type":"journal-article","created":{"date-parts":[[2023,5,17]],"date-time":"2023-05-17T07:22:00Z","timestamp":1684308120000},"page":"1299-1305","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Transcriptomic responses of peripheral blood mononuclear cells to cyclosporin and etanercept in a female infant with juvenile generalized pustular psoriasis"],"prefix":"10.1111","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7045-8338","authenticated-orcid":false,"given":"Yu\u2010Chen","family":"Lin","sequence":"first","affiliation":[{"name":"Department of Dermatology, National Cheng Kung University Hospital, College of Medicine National Cheng Kung University  Tainan Taiwan"},{"name":"International Center for Wound Repair and Regeneration (iWRR) National Cheng Kung University  Tainan Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9418-7392","authenticated-orcid":false,"given":"Yu\u2010Chen","family":"Jeng","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Cheng Kung University Hospital, College of Medicine National Cheng Kung University  Tainan Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wilson Jr F.","family":"Aala","sequence":"additional","affiliation":[{"name":"Institute of Clinical Medicine, College of Medicine National Cheng Kung University  Tainan Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7384-9289","authenticated-orcid":false,"given":"Yi\u2010Kai","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Cheng Kung University Hospital, College of Medicine National Cheng Kung University  Tainan Taiwan"},{"name":"International Center for Wound Repair and Regeneration (iWRR) National Cheng Kung University  Tainan Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pin\u2010Hsuan","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Cheng Kung University Hospital, College of Medicine National Cheng Kung University  Tainan Taiwan"},{"name":"School of Medicine, College of Medicine National Cheng Kung University  Tainan Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ya\u2010Ru","family":"Chuang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Cheng Kung University Hospital, College of Medicine National Cheng Kung University  Tainan Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3897-6522","authenticated-orcid":false,"given":"Chao\u2010Chun","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Cheng Kung University Hospital, College of Medicine National Cheng Kung University  Tainan Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4365-4533","authenticated-orcid":false,"given":"Chao\u2010Kai","family":"Hsu","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Cheng Kung University Hospital, College of Medicine National Cheng Kung University  Tainan Taiwan"},{"name":"International Center for Wound Repair and Regeneration (iWRR) National Cheng Kung University  Tainan Taiwan"},{"name":"Institute of Clinical Medicine, College of Medicine National Cheng Kung University  Tainan 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