{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T18:46:54Z","timestamp":1792522014529,"version":"4.5.0"},"reference-count":85,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T00:00:00Z","timestamp":1761091200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"publisher","award":["EA20170638020"],"award-info":[{"award-number":["EA20170638020"]}],"id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009371","name":"Nantes University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009371","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100017337","name":"Imagine Institute for Genetic Diseases","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100017337","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007492","name":"Fondation Bettencourt Schueller","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007492","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["RTG 2719"],"award-info":[{"award-number":["RTG 2719"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["443535983"],"award-info":[{"award-number":["443535983"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["ard.eular.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Annals of the Rheumatic Diseases"],"published-print":{"date-parts":[[2026,4]]},"DOI":"10.1016\/j.ard.2025.10.021","type":"journal-article","created":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T11:08:02Z","timestamp":1763636882000},"page":"715-729","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"title":["A de novo dominant-negative PSMB8 mutation causes severe CANDLE\/PRAAS due to arrested proteasome biogenesis"],"prefix":"10.1016","volume":"85","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-0353-6457","authenticated-orcid":false,"given":"Sophie","family":"Wolfgramm","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6531-6108","authenticated-orcid":false,"given":"Sara","family":"Alehashemi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-7151-3961","authenticated-orcid":false,"given":"Martin","family":"Wendlandt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6322-9222","authenticated-orcid":false,"given":"Franziska G.","family":"Thiel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8966-8362","authenticated-orcid":false,"given":"Adriana A.","family":"de Jesus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonas J.","family":"Papendorf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6028-0046","authenticated-orcid":false,"given":"Hannes","family":"Wolfgramm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-4453-1507","authenticated-orcid":false,"given":"Flavia Llorente","family":"Alvarez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emely","family":"Borngr\u00e4ber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kat","family":"Uss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2316-1221","authenticated-orcid":false,"given":"Farzana","family":"Bhuyan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anvitha","family":"Metpally","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0733-8421","authenticated-orcid":false,"given":"Leif","family":"Steil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Hentschker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-6544-8524","authenticated-orcid":false,"given":"Simone","family":"Venz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5194-9801","authenticated-orcid":false,"given":"Ruba Al","family":"Abdulla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-7400-8363","authenticated-orcid":false,"given":"L\u00e9a","family":"Poirier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-3277-026X","authenticated-orcid":false,"given":"Christopher","family":"Friend","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabiola Castello","family":"Casta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iren","family":"Horkayne-Szakaly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8264-316X","authenticated-orcid":false,"given":"Shoghik","family":"Akoghlanian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8420-8655","authenticated-orcid":false,"given":"Peter J.","family":"Mustillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8109-8502","authenticated-orcid":false,"given":"Roshini S.","family":"Abraham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5926-8437","authenticated-orcid":false,"given":"Paul","family":"Bastard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thais C.L.","family":"Moura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mayra B.","family":"Dorna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katia T.","family":"Kozu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2418-5279","authenticated-orcid":false,"given":"Jesper","family":"Kers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9920-2195","authenticated-orcid":false,"given":"Y. K. Onno","family":"Teng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8151-1539","authenticated-orcid":false,"given":"Robbert G.M.","family":"Bredius","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1197-5201","authenticated-orcid":false,"given":"Karin","family":"Palmblad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2878-4463","authenticated-orcid":false,"given":"AnnaCarin","family":"Horne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8103-0046","authenticated-orcid":false,"given":"Petter","family":"Brodin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1893-8198","authenticated-orcid":false,"given":"Pilar","family":"Blanco-Lobo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3639-8482","authenticated-orcid":false,"given":"Jos\u00e9","family":"Bernabeu-Wittel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Fernandez-Silveira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5018-0466","authenticated-orcid":false,"given":"Olaf","family":"Neth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Pagnier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2903-3135","authenticated-orcid":false,"given":"Guilaine","family":"Boursier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-2699-3827","authenticated-orcid":false,"given":"Maud","family":"Tusseau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7033-7520","authenticated-orcid":false,"given":"Thomas W.J.","family":"Huizinga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4383-7524","authenticated-orcid":false,"given":"Benjamin","family":"Fournier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8941-0935","authenticated-orcid":false,"given":"B\u00e9n\u00e9dicte","family":"Neven","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5689-3448","authenticated-orcid":false,"given":"Uwe","family":"V\u00f6lker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1959-3267","authenticated-orcid":false,"given":"Gijs W.E.","family":"Santen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8357-2984","authenticated-orcid":false,"given":"Jason M.","family":"Brenchley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine R.","family":"Calvo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Kleiner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3729-7878","authenticated-orcid":false,"given":"Fr\u00e9d\u00e9ric","family":"Ebstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2551-242X","authenticated-orcid":false,"given":"Elke","family":"Kr\u00fcger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7865-5769","authenticated-orcid":false,"given":"Raphaela","family":"Goldbach-Mansky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ard.2025.10.021_bib0001","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1038\/s41584-024-01184-8","article-title":"Emerging concepts and treatments in autoinflammatory interferonopathies and monogenic systemic lupus erythematosus","volume":"21","author":"Goldbach-Mansky","year":"2025","journal-title":"Nat Rev Rheumatol"},{"key":"10.1016\/j.ard.2025.10.021_bib0002","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1038\/s41580-022-00542-2","article-title":"The mechanisms and roles of selective autophagy in mammals","volume":"24","author":"Vargas","year":"2023","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1016\/j.ard.2025.10.021_bib0003","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1146\/annurev-biochem-061516-044908","article-title":"Proteasomal and autophagic degradation systems","volume":"86","author":"Dikic","year":"2017","journal-title":"Annu Rev Biochem"},{"key":"10.1016\/j.ard.2025.10.021_bib0004","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1016\/j.tibs.2017.09.002","article-title":"The ubiquitin code in the ubiquitin-proteasome system and autophagy","volume":"42","author":"Kwon","year":"2017","journal-title":"Trends Biochem Sci"},{"key":"10.1016\/j.ard.2025.10.021_bib0005","doi-asserted-by":"crossref","DOI":"10.3389\/fcell.2025.1523382","article-title":"Proteasome dynamics in response to metabolic changes","volume":"13","author":"Enenkel","year":"2025","journal-title":"Front Cell Dev Biol"},{"key":"10.1016\/j.ard.2025.10.021_bib0006","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1146\/annurev-biochem-062917-011931","article-title":"Structure and function of the 26S proteasome","volume":"87","author":"Bard","year":"2018","journal-title":"Annu Rev Biochem"},{"key":"10.1016\/j.ard.2025.10.021_bib0007","doi-asserted-by":"crossref","first-page":"2406","DOI":"10.1021\/acschembio.9b00695","article-title":"Proteolytic control of lipid metabolism","volume":"14","author":"Sam","year":"2019","journal-title":"ACS Chem Biol"},{"key":"10.1016\/j.ard.2025.10.021_bib0008","doi-asserted-by":"crossref","DOI":"10.1016\/j.phrs.2020.105248","article-title":"The ubiquitin-proteasome system and its crosstalk with mitochondria as therapeutic targets in medicine","volume":"163","author":"Kodro\u0144","year":"2021","journal-title":"Pharmacol Res"},{"key":"10.1016\/j.ard.2025.10.021_bib0009","doi-asserted-by":"crossref","first-page":"60","DOI":"10.3390\/biom11010060","article-title":"The ubiquitin\u2013proteasome system in immune cells","volume":"11","author":"\u00c7etin","year":"2021","journal-title":"Biomolecules"},{"key":"10.1016\/j.ard.2025.10.021_bib0010","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1146\/annurev.bi.65.070196.004101","article-title":"Structure and functions of the 20s and 26s proteasomes","volume":"65","author":"Coux","year":"1996","journal-title":"Annu Rev Biochem"},{"key":"10.1016\/j.ard.2025.10.021_bib0011","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1042\/bse0410031","article-title":"Proteasomes","volume":"41","author":"Dahlmann","year":"2005","journal-title":"Essays Biochem"},{"key":"10.1016\/j.ard.2025.10.021_bib0012","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1007\/s00251-019-01105-0","article-title":"Origin and evolution of the specialized forms of proteasomes involved in antigen presentation","volume":"71","author":"Kasahara","year":"2019","journal-title":"Immunogenetics"},{"key":"10.1016\/j.ard.2025.10.021_bib0013","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1038\/nri2687","article-title":"Proteasomes in immune cells: more than peptide producers?","volume":"10","author":"Groettrup","year":"2010","journal-title":"Nat Rev Immunol"},{"key":"10.1016\/j.ard.2025.10.021_bib0014","doi-asserted-by":"crossref","first-page":"2543","DOI":"10.1007\/s00018-012-0938-0","article-title":"Emerging roles of immunoproteasomes beyond MHC class I antigen processing","volume":"69","author":"Ebstein","year":"2012","journal-title":"Cell Mol Life Sci"},{"key":"10.1016\/j.ard.2025.10.021_bib0015","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1016\/j.cell.2010.07.036","article-title":"Immunoproteasomes preserve protein homeostasis upon interferon-induced oxidative stress","volume":"142","author":"Seifert","year":"2010","journal-title":"Cell"},{"key":"10.1016\/j.ard.2025.10.021_bib0016","doi-asserted-by":"crossref","first-page":"3216","DOI":"10.3390\/cells10113216","article-title":"On the role of the immunoproteasome in protein homeostasis","volume":"10","author":"Basler","year":"2021","journal-title":"Cells"},{"key":"10.1016\/j.ard.2025.10.021_bib0017","doi-asserted-by":"crossref","first-page":"2756","DOI":"10.3389\/fimmu.2019.02756","article-title":"Contribution of the unfolded protein response (UPR) to the pathogenesis of proteasome-associated autoinflammatory syndromes (PRAAS)","volume":"10","author":"Ebstein","year":"2019","journal-title":"Front Immunol"},{"key":"10.1016\/j.ard.2025.10.021_bib0018","doi-asserted-by":"crossref","first-page":"9241","DOI":"10.1073\/pnas.0501711102","article-title":"IFN-\u03b3-induced immune adaptation of the proteasome system is an accelerated and transient response","volume":"102","author":"Heink","year":"2005","journal-title":"Proc Natl Acad Sci"},{"key":"10.1016\/j.ard.2025.10.021_bib0019","doi-asserted-by":"crossref","first-page":"662","DOI":"10.3390\/biom4030662","article-title":"Assembly mechanisms of specialized core particles of the proteasome","volume":"4","author":"Bai","year":"2014","journal-title":"Biomolecules"},{"key":"10.1016\/j.ard.2025.10.021_bib0020","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1002\/art.33368","article-title":"Mutations in proteasome subunit \u03b2 type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity","volume":"64","author":"Liu","year":"2012","journal-title":"Arthritis Rheum"},{"key":"10.1016\/j.ard.2025.10.021_bib0021","doi-asserted-by":"crossref","first-page":"E58","DOI":"10.1210\/jc.2010-0488","article-title":"An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy","volume":"95","author":"Garg","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ard.2025.10.021_bib0022","doi-asserted-by":"crossref","first-page":"4150","DOI":"10.1172\/JCI58414","article-title":"A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans","volume":"121","author":"Kitamura","year":"2011","journal-title":"J Clin Invest"},{"key":"10.1016\/j.ard.2025.10.021_bib0023","doi-asserted-by":"crossref","first-page":"14914","DOI":"10.1073\/pnas.1106015108","article-title":"Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome","volume":"108","author":"Arima","year":"2011","journal-title":"Proc Natl Acad Sci"},{"key":"10.1016\/j.ard.2025.10.021_bib0024","doi-asserted-by":"crossref","DOI":"10.1186\/s41232-016-0011-8","article-title":"Dysfunctional immunoproteasomes in autoinflammatory diseases","volume":"36","author":"Arimochi","year":"2016","journal-title":"Inflamm Regen"},{"key":"10.1016\/j.ard.2025.10.021_bib0025","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2023.1190104","article-title":"Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS)","volume":"14","author":"Papendorf","year":"2023","journal-title":"Front Immunol"},{"key":"10.1016\/j.ard.2025.10.021_bib0026","doi-asserted-by":"crossref","first-page":"4196","DOI":"10.1172\/JCI81260","article-title":"Additive loss-of-function proteasome subunit mutations in CANDLE\/PRAAS patients promote type I IFN production","volume":"125","author":"Brehm","year":"2015","journal-title":"J Clin Invest"},{"key":"10.1016\/j.ard.2025.10.021_bib0027","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1016\/j.jaci.2019.11.024","article-title":"PSMB10, the last immunoproteasome gene missing for PRAAS","volume":"145","author":"Sarrabay","year":"2020","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.ard.2025.10.021_bib0028","doi-asserted-by":"crossref","first-page":"1120","DOI":"10.1016\/j.jaci.2021.07.039","article-title":"Hematopoietic stem cell transplantation in a patient with proteasome-associated autoinflammatory syndrome (PRAAS)","volume":"149","author":"Verhoeven","year":"2022","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.ard.2025.10.021_bib0029","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/j.jaci.2021.03.010","article-title":"Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor","volume":"148","author":"Kataoka","year":"2021","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.ard.2025.10.021_bib0030","doi-asserted-by":"crossref","first-page":"6819","DOI":"10.1038\/s41467-021-27085-y","article-title":"Heterozygous missense variant of the proteasome subunit \u03b2-type 9 causes neonatal-onset autoinflammation and immunodeficiency","volume":"12","author":"Kanazawa","year":"2021","journal-title":"Nat Commun"},{"key":"10.1016\/j.ard.2025.10.021_bib0031","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1016\/j.ajhg.2024.02.013","article-title":"Expanding the PRAAS spectrum: de novo mutations of immunoproteasome subunit \u03b2-type 10 in six infants with SCID-Omenn syndrome","volume":"111","author":"Van Der Made","year":"2024","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ard.2025.10.021_bib0032","doi-asserted-by":"crossref","first-page":"1378","DOI":"10.1016\/j.jaci.2024.12.1082","article-title":"Thymic and T-cell intrinsic critical roles associated with severe combined immunodeficiency and Omenn syndrome due to a heterozygous variant (G201R) in PSMB10","volume":"155","author":"Kuehn","year":"2025","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.ard.2025.10.021_bib0033","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.1016\/j.ajhg.2018.04.010","article-title":"Heterozygous truncating variants in POMP escape nonsense-mediated decay and cause a unique immune dysregulatory syndrome","volume":"102","author":"Poli","year":"2018","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ard.2025.10.021_bib0034","doi-asserted-by":"crossref","first-page":"1939","DOI":"10.1016\/j.jaci.2018.12.1012","article-title":"Novel proteasome assembly chaperone mutations in PSMG2\/PAC2 cause the autoinflammatory interferonopathy CANDLE\/PRAAS4","volume":"143","author":"De Jesus","year":"2019","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.ard.2025.10.021_bib0035","doi-asserted-by":"crossref","first-page":"1664","DOI":"10.1007\/s10875-021-01067-7","article-title":"Curative treatment of POMP-related autoinflammation and immune dysregulation (PRAID) by hematopoietic stem cell transplantation","volume":"41","author":"Meinhardt","year":"2021","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.ard.2025.10.021_bib0036","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1007\/s00431-015-2668-4","article-title":"CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature\u2014a rare case with a novel mutation","volume":"175","author":"Cavalcante","year":"2016","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.ard.2025.10.021_bib0037","doi-asserted-by":"crossref","first-page":"e29","DOI":"10.1016\/j.jaad.2013.01.015","article-title":"A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations in PSMB8","volume":"69","author":"McDermott","year":"2013","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.ard.2025.10.021_bib0038","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1186\/s12881-020-01060-8","article-title":"A Chinese case of Nakajo\u2013Nishimura syndrome with novel compound heterozygous mutations of the PSMB8 gene","volume":"21","author":"Jia","year":"2020","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.ard.2025.10.021_bib0039","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1080\/03009742.2017.1342273","article-title":"A homozygous mutation in the PSMB8 gene in a case with proteasome-associated autoinflammatory syndrome","volume":"47","author":"Contreras-Cubas","year":"2018","journal-title":"Scand J Rheumatol"},{"key":"10.1016\/j.ard.2025.10.021_bib0040","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/s12969-019-0322-9","article-title":"Disease course and treatment effects of a JAK inhibitor in a patient with CANDLE syndrome","volume":"17","author":"Boyadzhiev","year":"2019","journal-title":"Pediatr Rheumatol"},{"key":"10.1016\/j.ard.2025.10.021_bib0041","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1016\/j.ajhg.2010.10.031","article-title":"PSMB8 encoding the \u03b25i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome","volume":"87","author":"Agarwal","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ard.2025.10.021_bib0042","doi-asserted-by":"crossref","first-page":"75","DOI":"10.18176\/jiaci.0338","article-title":"Systemic autoimmunity in a patient with CANDLE syndrome","volume":"29","author":"Yamazaki-Nakashimada","year":"2019","journal-title":"J Investig Allergol Clin Immunol"},{"key":"10.1016\/j.ard.2025.10.021_bib0043","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1111\/pde.14517","article-title":"Successful treatment of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome with tofacitinib","volume":"38","author":"Patel","year":"2021","journal-title":"Pediatr Dermatol"},{"key":"10.1016\/j.ard.2025.10.021_bib0044","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1111\/bjd.12600","article-title":"Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a report of a novel mutation and review of the literature","volume":"170","author":"Kluk","year":"2014","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.ard.2025.10.021_bib0045","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2022.905960","article-title":"Assessment of type I interferon signatures in undifferentiated inflammatory diseases: a Japanese multicenter experience","volume":"13","author":"Miyamoto","year":"2022","journal-title":"Front Immunol"},{"key":"10.1016\/j.ard.2025.10.021_bib0046","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1007\/s10875-024-01692-y","article-title":"Proteasome-associated syndromes: updates on genetics, clinical manifestations, pathogenesis, and treatment","volume":"44","author":"Zhang","year":"2024","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.ard.2025.10.021_bib0047","doi-asserted-by":"crossref","first-page":"3041","DOI":"10.1172\/JCI98814","article-title":"JAK1\/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies","volume":"128","author":"Sanchez","year":"2018","journal-title":"J Clin Invest"},{"key":"10.1016\/j.ard.2025.10.021_bib0048","doi-asserted-by":"crossref","first-page":"eabi6763","DOI":"10.1126\/sciimmunol.abi6763","article-title":"Protein kinase R is an innate immune sensor of proteotoxic stress via accumulation of cytoplasmic IL-24","volume":"7","author":"Davidson","year":"2022","journal-title":"Sci Immunol"},{"key":"10.1016\/j.ard.2025.10.021_bib0049","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.gim.2021.09.005","article-title":"Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype","volume":"24","author":"Isidor","year":"2022","journal-title":"Genet Med"},{"key":"10.1016\/j.ard.2025.10.021_bib0050","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.jcmgh.2015.04.003","article-title":"The gut microbiota and liver disease","volume":"1","author":"Llorente","year":"2015","journal-title":"Cell Mol Gastroenterol Hepatol"},{"key":"10.1016\/j.ard.2025.10.021_bib0051","doi-asserted-by":"crossref","first-page":"1176","DOI":"10.1038\/s41594-024-01268-9","article-title":"Visualizing chaperone-mediated multistep assembly of the human 20S proteasome","volume":"31","author":"Adolf","year":"2024","journal-title":"Nat Struct Mol Biol"},{"key":"10.1016\/j.ard.2025.10.021_bib0052","doi-asserted-by":"crossref","first-page":"14323","DOI":"10.1074\/jbc.M308757200","article-title":"Role of C-terminal extensions of subunits \u03b22 and \u03b27 in assembly and activity of eukaryotic proteasomes","volume":"279","author":"Ramos","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1016\/j.ard.2025.10.021_bib0053","doi-asserted-by":"crossref","DOI":"10.1038\/ncomms10900","article-title":"A unified mechanism for proteolysis and autocatalytic activation in the 20S proteasome","volume":"7","author":"Huber","year":"2016","journal-title":"Nat Commun"},{"key":"10.1016\/j.ard.2025.10.021_bib0054","doi-asserted-by":"crossref","first-page":"19458","DOI":"10.3390\/ijms160819458","article-title":"Mitochondrial and ubiquitin proteasome system dysfunction in ageing and disease: two sides of the same coin?","volume":"16","author":"Ross","year":"2015","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.ard.2025.10.021_bib0055","doi-asserted-by":"crossref","DOI":"10.1038\/s41467-023-42634-3","article-title":"Mitochondrial dysfunction promotes the transition of precursor to terminally exhausted T cells through HIF-1\u03b1-mediated glycolytic reprogramming","volume":"14","author":"Wu","year":"2023","journal-title":"Nat Commun"},{"key":"10.1016\/j.ard.2025.10.021_bib0056","doi-asserted-by":"crossref","DOI":"10.1038\/s41467-022-30490-6","article-title":"Lipid droplet degradation by autophagy connects mitochondria metabolism to Prox1-driven expression of lymphatic genes and lymphangiogenesis","volume":"13","author":"Me\u00e7e","year":"2022","journal-title":"Nat Commun"},{"key":"10.1016\/j.ard.2025.10.021_bib0057","doi-asserted-by":"crossref","first-page":"5053","DOI":"10.3390\/molecules25215053","article-title":"Friend or foe: lipid droplets as organelles for protein and lipid storage in cellular stress response, aging and disease","volume":"25","author":"Geltinger","year":"2020","journal-title":"Molecules"},{"key":"10.1016\/j.ard.2025.10.021_bib0058","doi-asserted-by":"crossref","unstructured":"Kumar AV, Mills J, Parker WM, Lu Y, Harnett B, Babcock DT, et al. Lipid droplets modulate proteostasis, SQST-1\/SQSTM1 dynamics, and lifespan in C. elegans. iScience. 2023;26:107960. doi: 10.1016\/j.isci.2023.107960","DOI":"10.1016\/j.isci.2023.107960"},{"key":"10.1016\/j.ard.2025.10.021_bib0059","doi-asserted-by":"crossref","DOI":"10.1096\/fasebj.2022.36.S1.0I138","article-title":"Common signaling principles and interconnectivity in the ISR-UPR networks","volume":"36","author":"Acosta-Alvear","year":"2022","journal-title":"FASEB J"},{"key":"10.1016\/j.ard.2025.10.021_bib0060","doi-asserted-by":"crossref","first-page":"1374","DOI":"10.15252\/embr.201642195","article-title":"The integrated stress response","volume":"17","author":"Pakos-Zebrucka","year":"2016","journal-title":"EMBO Rep"},{"key":"10.1016\/j.ard.2025.10.021_bib0061","doi-asserted-by":"crossref","first-page":"4497","DOI":"10.1128\/MCB.15.8.4497","article-title":"The histidyl-tRNA synthetase-related sequence in the eIF-2\u03b1 protein kinase GCN2 interacts with tRNA and is required for activation in response to starvation for different amino acids","volume":"15","author":"Wek","year":"1995","journal-title":"Mol Cell Biol"},{"key":"10.1016\/j.ard.2025.10.021_bib0062","doi-asserted-by":"crossref","first-page":"3177","DOI":"10.3390\/cells10113177","article-title":"Lymphocyte counts and multiple sclerosis therapeutics: between mechanisms of action and treatment-limiting side effects","volume":"10","author":"Fischer","year":"2021","journal-title":"Cells"},{"key":"10.1016\/j.ard.2025.10.021_bib0063","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1038\/s41590-018-0186-z","article-title":"The immunoproteasome and thymoproteasome: functions, evolution and human disease","volume":"19","author":"Murata","year":"2018","journal-title":"Nat Immunol"},{"key":"10.1016\/j.ard.2025.10.021_bib0064","doi-asserted-by":"crossref","DOI":"10.1016\/j.coi.2022.102217","article-title":"Tissue-specific proteasomes in generation of MHC class I peptides and CD8+ T cells","volume":"77","author":"Matsuda-Lennikov","year":"2022","journal-title":"Curr Opin Immunol"},{"key":"10.1016\/j.ard.2025.10.021_bib0065","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2024.1488020","article-title":"Autophagy and proteasomes in thymic epithelial cells: essential bulk protein degradation systems for immune homeostasis maintenance","volume":"15","author":"Yamaguchi","year":"2024","journal-title":"Front Immunol"},{"key":"10.1016\/j.ard.2025.10.021_bib0066","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2018.00678","article-title":"The CD8 T cell response to respiratory virus infections","volume":"9","author":"Schmidt","year":"2018","journal-title":"Front Immunol"},{"key":"10.1016\/j.ard.2025.10.021_bib0067","doi-asserted-by":"crossref","DOI":"10.1038\/emm.2014.105","article-title":"Epstein\u2013Barr virus-positive T\/NK-cell lymphoproliferative disorders","volume":"47","author":"Cai","year":"2015","journal-title":"Exp Mol Med"},{"key":"10.1016\/j.ard.2025.10.021_bib0068","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2021.646209","article-title":"The role of proteasomes in the thymus","volume":"12","author":"Frantzeskakis","year":"2021","journal-title":"Front Immunol"},{"key":"10.1016\/j.ard.2025.10.021_bib0069","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1038\/nri3667","article-title":"Positive and negative selection of the T cell repertoire: what thymocytes see (and don\u2019t see)","volume":"14","author":"Klein","year":"2014","journal-title":"Nat Rev Immunol"},{"key":"10.1016\/j.ard.2025.10.021_bib0070","doi-asserted-by":"crossref","first-page":"931","DOI":"10.4161\/auto.24374","article-title":"Thymic epithelial cells use macroautophagy to turn their inside out for CD4 T cell tolerance","volume":"9","author":"Wu","year":"2013","journal-title":"Autophagy"},{"key":"10.1016\/j.ard.2025.10.021_bib0071","doi-asserted-by":"crossref","first-page":"193","DOI":"10.3748\/wjg.14.193","article-title":"Nonalcoholic fatty liver disease and mitochondrial dysfunction","volume":"14","author":"Wei","year":"2008","journal-title":"World J Gastroenterol"},{"key":"10.1016\/j.ard.2025.10.021_bib0072","doi-asserted-by":"crossref","DOI":"10.1016\/j.redox.2021.102043","article-title":"Proteasome dysfunction under compromised redox metabolism dictates liver injury in NASH through ASK1\/PPAR\u03b3 binodal complementary modules","volume":"45","author":"Das","year":"2021","journal-title":"Redox Biol"},{"key":"10.1016\/j.ard.2025.10.021_bib0073","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2020.00338","article-title":"Heterogeneity of liver disease in common variable immunodeficiency disorders","volume":"11","author":"Pecoraro","year":"2020","journal-title":"Front Immunol"},{"key":"10.1016\/j.ard.2025.10.021_bib0074","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1007\/s10875-013-9873-6","article-title":"Nodular regenerative hyperplasia in common variable immunodeficiency","volume":"33","author":"Fuss","year":"2013","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.ard.2025.10.021_bib0075","doi-asserted-by":"crossref","first-page":"2418","DOI":"10.1182\/bloodadvances.2019001315","article-title":"New insights into risk factors for transplant-associated thrombotic microangiopathy in pediatric HSCT","volume":"4","author":"Elfeky","year":"2020","journal-title":"Blood Adv"},{"key":"10.1016\/j.ard.2025.10.021_bib0076","doi-asserted-by":"crossref","first-page":"1634","DOI":"10.1016\/j.jaci.2022.12.822","article-title":"Late-onset enteric virus infection associated with hepatitis (EVAH) in transplanted SCID patients","volume":"151","author":"Riller","year":"2023","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.ard.2025.10.021_bib0077","doi-asserted-by":"crossref","DOI":"10.1136\/rmdopen-2017-000508","article-title":"Endothelial dysfunction is associated with activation of the type I interferon system and platelets in patients with systemic lupus erythematosus","volume":"3","author":"Tyd\u00e9n","year":"2017","journal-title":"RMD Open"},{"key":"10.1016\/j.ard.2025.10.021_bib0078","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2023.1197361","article-title":"Clinical manifestations and approach to the management of patients with common variable immunodeficiency and liver disease","volume":"14","author":"Daza-Cajigal","year":"2023","journal-title":"Front Immunol"},{"key":"10.1016\/j.ard.2025.10.021_bib0079","doi-asserted-by":"crossref","first-page":"1917","DOI":"10.1053\/j.gastro.2008.02.081","article-title":"Hepatic involvement and portal hypertension predict mortality in chronic granulomatous disease","volume":"134","author":"Feld","year":"2008","journal-title":"Gastroenterology"},{"key":"10.1016\/j.ard.2025.10.021_bib0080","doi-asserted-by":"crossref","first-page":"eabo3189","DOI":"10.1126\/scitranslmed.abo3189","article-title":"PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production","volume":"15","author":"Ebstein","year":"2023","journal-title":"Sci Transl Med"},{"key":"10.1016\/j.ard.2025.10.021_bib0081","doi-asserted-by":"crossref","first-page":"1352","DOI":"10.1016\/j.ajhg.2024.05.016","article-title":"PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response","volume":"111","author":"Deb","year":"2024","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ard.2025.10.021_bib0082","unstructured":"K\u00fcry S, Stanton JE, Van Woerden G, Kichler S, Morel A, Houge G, et al. Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies. 2024."},{"key":"10.1016\/j.ard.2025.10.021_bib0083","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1016\/j.molcel.2012.08.003","article-title":"Failure of amino acid homeostasis causes cell death following proteasome inhibition","volume":"48","author":"Suraweera","year":"2012","journal-title":"Mol Cell"},{"key":"10.1016\/j.ard.2025.10.021_bib0084","doi-asserted-by":"crossref","first-page":"4285","DOI":"10.3390\/ijms24054285","article-title":"Multiple roles of the stress sensor GCN2 in immune cells","volume":"24","author":"Zhao","year":"2023","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.ard.2025.10.021_bib0085","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1136\/ard-2023-225463","article-title":"Disease flares with baricitinib dose reductions and development of flare criteria in patients with CANDLE\/PRAAS","volume":"83","author":"Cetin Gedik","year":"2024","journal-title":"Ann Rheum Dis"}],"container-title":["Annals of the Rheumatic Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0003496725044607?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0003496725044607?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,6,7]],"date-time":"2026-06-07T08:20:00Z","timestamp":1780820400000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0003496725044607"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4]]},"references-count":85,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026,4]]}},"alternative-id":["S0003496725044607"],"URL":"https:\/\/doi.org\/10.1016\/j.ard.2025.10.021","relation":{},"ISSN":["0003-4967"],"issn-type":[{"value":"0003-4967","type":"print"}],"subject":[],"published":{"date-parts":[[2026,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A de novo dominant-negative PSMB8 mutation causes severe CANDLE\/PRAAS due to arrested proteasome biogenesis","name":"articletitle","label":"Article Title"},{"value":"Annals of the Rheumatic Diseases","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ard.2025.10.021","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Author(s). Published by Elsevier B.V. on behalf of European Alliance of Associations for Rheumatology (EULAR).","name":"copyright","label":"Copyright"}]}}