{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T13:32:45Z","timestamp":1774272765068,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"am","delay-in-days":366,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#am"},{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002241","name":"Japan Science and Technology Agency","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002241","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pathogenic variants in <jats:italic>MPO<\/jats:italic>, which encodes the myeloperoxidase, were reported as causative genetic defects in several cases of generalised pustular psoriasis (GPP) in addition to patients with myeloperoxidase deficiency in 2020. However, which clinical subtypes of GPP patients have pathogenic variants in <jats:italic>MPO<\/jats:italic> remains largely undetermined, and elucidating this is clinically important. The present report outlines a mild case of GPP with a rare missense heterozygous variant, c.1810C&gt;T p.(Arg604Cys), in <jats:italic>MPO<\/jats:italic>. Our structural analysis and functional assays to measure myeloperoxidase activity suggest that the present <jats:italic>MPO<\/jats:italic> substitution is a hypomorphic variant in <jats:italic>MPO<\/jats:italic>. Thus, the mild phenotype of the present GPP patient might be associated with an incomplete hypomorphic loss\u2010of\u2010function variant in <jats:italic>MPO<\/jats:italic>. Additionally, the severe intractable edematous pustules and erythema improved dramatically after five rounds of granulocyte and monocyte adsorption apheresis (GMA) therapy. This is the first report of GMA treatment for GPP associated with a pathogenic variant in <jats:italic>MPO<\/jats:italic>, as far as we know. Our findings suggest that GMA might be a useful and powerful tool for controlling GPP in patients with myeloperoxidase deficiency.<\/jats:p>","DOI":"10.1111\/exd.14846","type":"journal-article","created":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T14:24:59Z","timestamp":1685629499000},"page":"1557-1562","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Mild generalised pustular psoriasis patient with a heterozygous hypomorphic <scp><i>MPO<\/i><\/scp> variant successfully treated with granulocyte and monocyte adsorption apheresis"],"prefix":"10.1111","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5958-2875","authenticated-orcid":false,"given":"Takuya","family":"Takeichi","sequence":"first","affiliation":[{"name":"Department of Dermatology Nagoya University Graduate School of Medicine  Nagoya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takenori","family":"Yoshikawa","sequence":"additional","affiliation":[{"name":"Department of Dermatology Nagoya University Graduate School of Medicine  Nagoya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad Nasir","family":"Iqbal","sequence":"additional","affiliation":[{"name":"Department of Bioinformatics, Institute of Biochemistry, Biotechnology and Bioinformatics (IBBB) The Islamia University of Bahawalpur  Bahawalpur Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Farooq","sequence":"additional","affiliation":[{"name":"Department of Bioinformatics &amp; Biotechnology Government College University Faisalabad  Faisalabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoki","family":"Taki","sequence":"additional","affiliation":[{"name":"Department of Dermatology Nagoya University Graduate School of Medicine  Nagoya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshinao","family":"Muro","sequence":"additional","affiliation":[{"name":"Department of Dermatology Nagoya University Graduate School of Medicine  Nagoya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yutaka","family":"Shimomura","sequence":"additional","affiliation":[{"name":"Department of Dermatology Yamaguchi University Graduate School of Medicine  Ube Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariko","family":"Seishima","sequence":"additional","affiliation":[{"name":"Department of Dermatology Asahi University Hospital  Gifu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masashi","family":"Akiyama","sequence":"additional","affiliation":[{"name":"Department of Dermatology Nagoya University Graduate School of Medicine  Nagoya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,6]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.07.001"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.06.020"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.16700"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/ced\/llac043"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jlr.2022.100308"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2019.06.004"},{"key":"e_1_2_11_8_1","first-page":"11","article-title":"Identification of lead compounds against Scm (fms10) in Enterococcus faecium using computer aided drug designing","volume":"11","author":"Rasheed MA","year":"2021","journal-title":"Life (Basel)"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1021\/ct900587b"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40257-021-00653-0"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.12383"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.15509"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2017.05.019"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.14476"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2018.01.012"}],"container-title":["Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/am-pdf\/10.1111\/exd.14846","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/exd.14846","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,8]],"date-time":"2023-09-08T06:14:40Z","timestamp":1694153680000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/exd.14846"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6]]},"references-count":15,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["10.1111\/exd.14846"],"URL":"https:\/\/doi.org\/10.1111\/exd.14846","archive":["Portico"],"relation":{},"ISSN":["0906-6705","1600-0625"],"issn-type":[{"value":"0906-6705","type":"print"},{"value":"1600-0625","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6]]},"assertion":[{"value":"2023-03-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}