{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T19:07:36Z","timestamp":1791400056271,"version":"4.3.3"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,12,18]],"date-time":"2014-12-18T00:00:00Z","timestamp":1418860800000},"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":["Int J Dermatology"],"published-print":{"date-parts":[[2015,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The disease spectrum currently known as the proteasome\u2010associated autoinflammatory syndromes (<jats:styled-content style=\"fixed-case\">PRAAS<\/jats:styled-content>) was first described in 1939 in patients who presented with recurrent fevers beginning in infancy or early childhood, which were accompanied by nodular erythema, a pernio\u2010like rash, and joint contractures. Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (<jats:styled-content style=\"fixed-case\">CANDLE<\/jats:styled-content>) syndrome, Nakajo\u2013Nishimura syndrome (<jats:styled-content style=\"fixed-case\">NNS<\/jats:styled-content>), joint contractures, muscle atrophy, microcytic anemia and panniculitis\u2010induced lipodystrophy (<jats:styled-content style=\"fixed-case\">JMP<\/jats:styled-content>) syndrome, and Japanese autoinflammatory syndrome with lipodystrophy (<jats:styled-content style=\"fixed-case\">JASL<\/jats:styled-content>), have been used to categorize patients with diseases within the same spectrum. Recently, independent studies have identified mutations in the human proteasome subunit <jats:italic>\u03b2<\/jats:italic> type 8 (<jats:italic><jats:styled-content style=\"fixed-case\">PSMB<\/jats:styled-content>8<\/jats:italic>) gene, which result in a sustained inflammatory response in all syndromes. Further functional studies not only suggest a causative role of <jats:italic><jats:styled-content style=\"fixed-case\">PSMB<\/jats:styled-content>8<\/jats:italic> mutations but also imply that they represent one disease spectrum, referred to as <jats:styled-content style=\"fixed-case\">PRAAS<\/jats:styled-content>. In this paper, we review the clinical presentations and laboratory findings of <jats:styled-content style=\"fixed-case\">PRAAS<\/jats:styled-content>, as well as the most recent advances in pathogeneses, diagnosis, and treatment options for patients with diseases in this spectrum.<\/jats:p>","DOI":"10.1111\/ijd.12695","type":"journal-article","created":{"date-parts":[[2014,12,19]],"date-time":"2014-12-19T06:56:43Z","timestamp":1418972203000},"page":"121-129","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":99,"title":["Proteasome\u2010associated autoinflammatory syndromes: advances in pathogeneses, clinical presentations, diagnosis, and management"],"prefix":"10.1111","volume":"54","author":[{"given":"Amelia","family":"McDermott","sequence":"first","affiliation":[{"name":"College of Medicine University of Arkansas for Medical Sciences Little Rock AR USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Jacks","sequence":"additional","affiliation":[{"name":"Jacks Dermatology PA Pine Bluff AR USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1439-1578","authenticated-orcid":false,"given":"Marcus","family":"Kessler","sequence":"additional","affiliation":[{"name":"Department of Radiology University of Arkansas for Medical Sciences Little Rock AR USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter D.","family":"Emanuel","sequence":"additional","affiliation":[{"name":"Department of Hematology and Oncology University of Arkansas for Medical Sciences Little Rock AR USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Arkansas for Medical Sciences Little Rock AR USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,12,18]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.33368"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1106015108"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.10.031"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI58414"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.2332\/allergolint.11-RAI-0416"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2010.07.036"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2011.12.030"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2013.01.015"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.8066463"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1985.01660080107026"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.32.42"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.3109\/s10165-008-0033-4"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.04.046"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-0488"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1182\/asheducation-2005.1.74"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.1978"}],"container-title":["International Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fijd.12695","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ijd.12695","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T12:11:42Z","timestamp":1695557502000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ijd.12695"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,12,18]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,2]]}},"alternative-id":["10.1111\/ijd.12695"],"URL":"https:\/\/doi.org\/10.1111\/ijd.12695","archive":["Portico"],"relation":{},"ISSN":["0011-9059","1365-4632"],"issn-type":[{"value":"0011-9059","type":"print"},{"value":"1365-4632","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,12,18]]},"assertion":[{"value":"2014-12-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}