{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T22:57:23Z","timestamp":1781132243089,"version":"3.54.1"},"reference-count":18,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T00:00:00Z","timestamp":1781136000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>\n                    Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autosomal dominant hereditary autoinflammatory disease caused by\n                    <jats:italic>PSTPIP1<\/jats:italic>\n                    gene variants and belongs to the\n                    <jats:italic>PSTPIP1<\/jats:italic>\n                    -associated inflammatory diseases (PAIDs). Its core clinical manifestations include recurrent pyogenic arthritis, pyoderma gangrenosum, and severe acne with onset in childhood or adolescence. Some patients may also present with multisystem involvement, such as inflammatory bowel disease and scleritis. Inflammation markers, such as CRP and ESR, are often significantly elevated. Treatment mainly involves targeted inhibition of inflammatory pathways, such as IL-1 inhibitors and TNF-\u03b1 inhibitors. In this article, we report a Chinese patient with PAPA syndrome with disease onset at 13\u00a0years of age, whose main manifestations were pyoderma gangrenosum and acne. Genetic testing revealed a\n                    <jats:italic>de novo PSTPIP1<\/jats:italic>\n                    gene variant (c.748G&amp;gt;A, p.Glu250Lys). We also reviewed recent literature on PAPA syndrome, summarizing its clinical manifestations, diagnosis, and treatment to enhance physicians\u2019 understanding of the condition.\n                  <\/jats:p>","DOI":"10.3389\/fgene.2026.1825761","type":"journal-article","created":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T22:10:23Z","timestamp":1781129423000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["A de novo heterozygous PSTPIP1 variant associated with PAPA syndrome: a Chinese case report and literature review"],"prefix":"10.3389","volume":"17","author":[{"given":"Mengmeng","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Rare Diseases, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences and Peking Union Medical College; State Key Laboratory of Complex Severe and Rare Diseases, PUMCH","place":["Beijing, China"]},{"name":"Department of Rheumatology and Immunology, Tianjin First Central Hospital","place":["Tianjin, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, Tianjin First Central Hospital","place":["Tianjin, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Rare Diseases, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences and Peking Union Medical College; State Key Laboratory of Complex Severe and Rare Diseases, PUMCH","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,6,11]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1141","DOI":"10.1016\/j.jid.2020.08.028","article-title":"Phenotypic associations of PSTPIP1 sequence variants in PSTPIP1-associated autoinflammatory diseases","volume":"141","author":"Boursier","year":"2021","journal-title":"J. Invest Dermatol."},{"key":"B18","doi-asserted-by":"publisher","first-page":"1121","DOI":"10.35541\/cjd.20250045","article-title":"Chinese expert consensus on diagnosis and management of pyoderma gangrenosum","volume":"58","year":"2025","journal-title":"Chin. J. Dermatol."},{"key":"B3","first-page":"797","article-title":"Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa","volume":"136","author":"David","year":"2016","journal-title":"J. Invest Dermatol."},{"key":"B2","doi-asserted-by":"publisher","first-page":"102297","DOI":"10.1016\/j.coi.2022.102297","article-title":"Genetic landscape of monogenic autoinflammatory disorders","volume":"79","author":"Guarneri","year":"2022","journal-title":"Curr. Opin. Immunol."},{"key":"B7","doi-asserted-by":"publisher","first-page":"19","DOI":"10.18502\/igj.v5il.14066","article-title":"Pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) and PAPA-like syndromes: systematic review of the literature","volume":"5","author":"Hajialigol","year":"2023","journal-title":"Immunol. Genet."},{"key":"B11","doi-asserted-by":"publisher","first-page":"751","DOI":"10.1093\/jleuko\/qlad089","article-title":"PSTPIP1 gain-of-function variants drive exaggerated NET release in PAPA patient neutrophils","volume":"114","author":"Hogquist","year":"2023","journal-title":"J. Leukoc. Biol."},{"key":"B16","doi-asserted-by":"publisher","first-page":"751","DOI":"10.1093\/jleuko\/qlad089","article-title":"PSTPIP1 gain-of-function variants drive exaggerated NET release in PAPA patient neutrophils","volume":"114","author":"Hogquist","year":"2023","journal-title":"J. Leukoc. Biol."},{"key":"B4","doi-asserted-by":"publisher","first-page":"989","DOI":"10.3899\/jrheum.231287","article-title":"Combined IL-1\u03b2 and TNF-\u03b1 blockade in severe PAPA syndrome: a novel therapeutic approach","volume":"51","author":"Garcia","year":"2024","journal-title":"J. Rheumatol."},{"key":"B5","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1097\/RHU.0000000000002689","article-title":"Novel PSTPIP1 mutation (c.761T>G, p.Ile254Ser) associated with atypical PAPA syndrome: a case report","volume":"30","author":"Lee","year":"2024","journal-title":"J. Clin. Rheumatol."},{"key":"B6","doi-asserted-by":"publisher","first-page":"611","DOI":"10.1016\/S0025-6196(11)63565-9","article-title":"A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome","volume":"72","author":"Lindor","year":"1997","journal-title":"Mayo Clin. Proc."},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.18502\/igi.v5i1.14066","article-title":"Pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) and PAPA-like syndromes: systematic review of the literature","volume":"5","author":"Marzano","year":"2023","journal-title":"Immunol. Genet. J."},{"key":"B8","volume-title":"Textbook of Pediatric Rheumatology","author":"Petty","year":"2021"},{"key":"B9","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"B10","doi-asserted-by":"crossref","first-page":"1339337","DOI":"10.3389\/fimmu.2023.1339337","article-title":"The expanding spectrum of pemphigus-associated autoinflammatory diseases (PAIDs): a systematic review","volume":"15","author":"Sanz-Cabanillas","year":"2024","journal-title":"Front. Immunol."},{"key":"B15","doi-asserted-by":"publisher","first-page":"79","DOI":"10.4103\/ijd.ijd_277_21","article-title":"What can we learn from a tortuous diagnosis and treatment experience for a child with PAPA syndrome? A case report","volume":"67","author":"Tan","year":"2022","journal-title":"Indian J. Dermatol."},{"key":"B12","doi-asserted-by":"publisher","first-page":"1120","DOI":"10.1093\/rheumatology\/kei178","article-title":"Peculiarities of PAPA syndrome","volume":"45","author":"Tallon","year":"2006","journal-title":"Rheumatol. Oxf."},{"key":"B13","first-page":"586","article-title":"Advances in diagnosis and treatment of pyoderma gangrenosum","volume":"53","author":"Wang","year":"2020","journal-title":"Chin. J. Dermatol."},{"key":"B14","doi-asserted-by":"publisher","first-page":"735851","DOI":"10.3389\/fimmu.2021.735851","article-title":"Pyogenic arthritis, pyoderma gangrenosum, and acne: a single-center experience and literature review","volume":"12","author":"Wang","year":"2021","journal-title":"Front. Immunol."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2026.1825761\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T22:10:25Z","timestamp":1781129425000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2026.1825761\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,11]]},"references-count":18,"alternative-id":["10.3389\/fgene.2026.1825761"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2026.1825761","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,11]]},"article-number":"1825761"}}