{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T15:19:48Z","timestamp":1790263188385,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,8,12]],"date-time":"2021-08-12T00:00:00Z","timestamp":1628726400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004396","name":"Thailand Research Fund","doi-asserted-by":"publisher","award":["BRG6180007"],"award-info":[{"award-number":["BRG6180007"]}],"id":[{"id":"10.13039\/501100004396","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Adult\u2010onset immunodeficiency syndrome (AOID) with anti\u2010interferon (IFN)\u2010\u03b3 autoantibodies is characterized by an AIDS\u2010like illness with disruptive IFN\u2010\u03b3 signaling. Patients generally present with recurrent and disseminated opportunistic infections along with neutrophilic dermatoses. Generalized pustular psoriasis (GPP; Online Mendelian Inheritance in Man #614204) is characterized by acute generalized erythema and scaling with numerous aseptic pustules. Mutations in <jats:italic>SERPINA3<\/jats:italic> have been reported as predisposing risk factors for both AOID and GPP. Here, we report two unrelated patients, one with AOID and a pustular skin reaction and the other with GPP, who both carried the same heterozygous variant c.718G&gt;A (p.Val240Met) in <jats:italic>SERPINA1<\/jats:italic>. Our observation of a shared mutation in <jats:italic>SERPINA1<\/jats:italic> in AOID and GPP indicate possible pathobiological and disease mechanism similarities in these two disorders. Thus, variants in both <jats:italic>SERPINA1<\/jats:italic>, <jats:italic>SERPINA3<\/jats:italic>, and potentially other SERPIN family members may be associated with the etiology of GPP and AOID.<\/jats:p>","DOI":"10.1111\/1346-8138.16081","type":"journal-article","created":{"date-parts":[[2021,8,13]],"date-time":"2021-08-13T05:33:34Z","timestamp":1628832814000},"page":"1597-1601","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["<i>SERPINA1<\/i>, generalized pustular psoriasis, and adult\u2010onset immunodeficiency"],"prefix":"10.1111","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9841-0881","authenticated-orcid":false,"given":"Piranit","family":"Kantaputra","sequence":"first","affiliation":[{"name":"Center of Excellence in Medical Genetics Research Chiang Mai University Chiang Mai Thailand"},{"name":"Division of Pediatric Dentistry Department of Orthodontics and Pediatric Dentistry Faculty of Dentistry Chiang Mai University Chiang Mai Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8954-7672","authenticated-orcid":false,"given":"Suteeraporn","family":"Chaowattanapanit","sequence":"additional","affiliation":[{"name":"Division of Dermatology Department of Medicine Faculty of Medicine Khon Kaen University Khon Kaen Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salin","family":"Kiratikanon","sequence":"additional","affiliation":[{"name":"Division of Dermatology Department of Internal Medicine Faculty of Medicine Chiang Mai University Chiang Mai Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romanee","family":"Chaiwarith","sequence":"additional","affiliation":[{"name":"Division of Infectious Diseases Department of Internal Medicine Faculty of Medicine Chiang Mai University Chiang Mai Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3417-6210","authenticated-orcid":false,"given":"Chareon","family":"Choonhakarn","sequence":"additional","affiliation":[{"name":"Division of Dermatology Department of Medicine Faculty of Medicine Khon Kaen University Khon Kaen Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Worrachet","family":"Intachai","sequence":"additional","affiliation":[{"name":"Center of Excellence in Medical Genetics Research Chiang Mai University Chiang Mai Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalina","family":"Quarto","sequence":"additional","affiliation":[{"name":"Department of Surgery Division of Plastic and Reconstructive Surgery Stanford University School of Medicine Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sissades","family":"Tongsima","sequence":"additional","affiliation":[{"name":"National Biobank of Thailand National Science and Technology Development Agency (NSTDA Thailand Science Park Pathum Thani Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R.","family":"Ketudat Cairns","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemistry Chulabhorn Research Institute Bangkok Thailand"},{"name":"School of Chemistry Institute of Science, and Center for Biomolecular Structure, Function and Application Suranaree University of Technology Nakhon Ratchasima Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chumpol","family":"Ngamphiw","sequence":"additional","affiliation":[{"name":"National Biobank of Thailand National Science and Technology Development Agency (NSTDA Thailand Science Park Pathum Thani Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3708-9964","authenticated-orcid":false,"given":"John A.","family":"McGrath","sequence":"additional","affiliation":[{"name":"St John\u2019s Institute of Dermatology (Guy\u2019s Campus), King\u2019s College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6654-3409","authenticated-orcid":false,"given":"Mati","family":"Chuamanochan","sequence":"additional","affiliation":[{"name":"Division of Dermatology Department of Internal Medicine Faculty of Medicine Chiang Mai University Chiang Mai 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