{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,2]],"date-time":"2026-03-02T16:19:09Z","timestamp":1772468349588,"version":"3.50.1"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T00:00:00Z","timestamp":1768953600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T00:00:00Z","timestamp":1768953600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Z Rheumatol"],"published-print":{"date-parts":[[2026,3]]},"DOI":"10.1007\/s00393-025-01774-1","type":"journal-article","created":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T08:26:52Z","timestamp":1768984012000},"page":"136-140","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetischer Hintergrund der chronischen nichtbakteriellen Osteomyelitis","Genetic basis of chronic nonbacterial osteomyelitis"],"prefix":"10.1007","volume":"85","author":[{"given":"Mohammad","family":"Deen Hayatu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrike","family":"H\u00fcffmeier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,1,21]]},"reference":[{"issue":"2","key":"1774_CR1","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1136\/ard-2024-226446","volume":"84","author":"E Winter","year":"2025","unstructured":"Winter\u00a0E, Dekkers\u00a0O, Andreasen\u00a0C, D\u2019Angelo\u00a0S, Appelman-Dijkstra\u00a0N, Appenzeller\u00a0S et\u00a0al (2025) Expert consensus recommendations for the diagnosis and treatment of chronic non-bacterial osteitis (CNO) in adults. Ann Rheum Dis 84(2):169\u2013187","journal-title":"Ann Rheum Dis"},{"issue":"5","key":"1774_CR2","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1093\/rheumatology\/38.5.463","volume":"38","author":"A Dumolard","year":"1999","unstructured":"Dumolard\u00a0A, Gaudin\u00a0P, Juvin\u00a0R, Bost\u00a0M, Peoc\u2019h\u00a0M, Phelip\u00a0X (1999) SAPHO syndrome or psoriatic arthritis? A\u00a0familial case study. Rheumatol 38(5):463\u2013467","journal-title":"Rheumatol"},{"issue":"2","key":"1774_CR3","doi-asserted-by":"publisher","first-page":"401","DOI":"10.3899\/jrheum.090456","volume":"37","author":"M Hurtado-Nedelec","year":"2010","unstructured":"Hurtado-Nedelec\u00a0M, Chollet-Martin\u00a0S, Chapeton\u00a0D, Hugot\u00a0JP, Hayem\u00a0G, Gerard\u00a0B (2010) Genetic susceptibility factors in a\u00a0cohort of 38\u00a0patients with SAPHO syndrome: a\u00a0study of PSTPIP2, NOD2, and LPIN2 genes. J\u00a0Rheumatol 37(2):401\u2013409","journal-title":"J Rheumatol"},{"issue":"1","key":"1774_CR4","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/S0248-8663(87)80112-1","volume":"8","author":"D Kurc","year":"1987","unstructured":"Kurc\u00a0D, De Saint-Pere\u00a0R, Madoule\u00a0P, Laoussadi\u00a0S, Caquet\u00a0R (1987) Chronic osteitis and arthritis of palmoplantar pustulosis. A\u00a0familial form of B\u201127 negative spondylarthropathy. Rev Med Interne 8(1):79\u201384","journal-title":"Rev Med Interne"},{"issue":"5","key":"1774_CR5","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1001\/archderm.1992.01680150133025","volume":"128","author":"M Isoda","year":"1992","unstructured":"Isoda\u00a0M (1992) Familial cases of pustulosis palmoplantaris with arthrosteitis. Arch Dermatol 128(5):699\u2013700","journal-title":"Arch Dermatol"},{"key":"1774_CR6","doi-asserted-by":"publisher","first-page":"103183","DOI":"10.1016\/j.jaut.2024.103183","volume":"144","author":"A Charras","year":"2024","unstructured":"Charras\u00a0A, Hofmann\u00a0SR, Cox\u00a0A, Schulze\u00a0F, Russ\u00a0S, Northey\u00a0S et\u00a0al. (2024) P2RX7 gene variants associate with altered inflammasome assembly and reduced pyroptosis in chronic nonbacterial osteomyelitis (CNO). J\u00a0Autoimmun 144:103183","journal-title":"J Autoimmun"},{"issue":"10","key":"1774_CR7","doi-asserted-by":"publisher","first-page":"3264","DOI":"10.1002\/art.23942","volume":"58","author":"PJ Ferguson","year":"2008","unstructured":"Ferguson\u00a0PJ, Lokuta\u00a0MA, El-Shanti\u00a0HI, Muhle\u00a0L, Bing\u00a0X, Huttenlocher\u00a0A (2008) Neutrophil dysfunction in a\u00a0family with a\u00a0SAPHO syndrome-like phenotype. Arthritis Rheum 58(10):3264\u20133269","journal-title":"Arthritis Rheum"},{"issue":"1","key":"1774_CR8","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1007\/s00296-019-04400-x","volume":"40","author":"S Concha","year":"2020","unstructured":"Concha\u00a0S, Hernandez-Ojeda\u00a0A, Contreras\u00a0O, Mendez\u00a0C, Talesnik\u00a0E, Borzutzky\u00a0A (2020) Chronic nonbacterial osteomyelitis in children: a\u00a0multicenter case series. Rheumatol Int 40(1):115\u2013120","journal-title":"Rheumatol Int"},{"issue":"3","key":"1774_CR9","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1016\/S0049-0172(99)80027-4","volume":"29","author":"G Hayem","year":"1999","unstructured":"Hayem\u00a0G, Bouchaud-Chabot\u00a0A, Benali\u00a0K, Roux\u00a0S, Palazzo\u00a0E, Silbermann-Hoffman\u00a0O et\u00a0al. (1999) SAPHO syndrome: a\u00a0long-term follow-up study of 120 cases. Semin Arthritis Rheum 29(3):159\u2013171","journal-title":"Semin Arthritis Rheum"},{"issue":"1","key":"1774_CR10","first-page":"125","volume":"26","author":"R Queiro","year":"2008","unstructured":"Queiro\u00a0R, Moreno\u00a0P, Sarasqueta\u00a0C, Alperi\u00a0M, Riestra\u00a0JL, Ballina\u00a0J (2008) Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome and psoriatic arthritis exhibit a\u00a0different immunogenetic profile. Clin Exp Rheumatol 26(1):125\u2013128","journal-title":"Clin Exp Rheumatol"},{"issue":"1","key":"1774_CR11","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1186\/s12969-023-00826-7","volume":"21","author":"D O\u2019Leary","year":"2023","unstructured":"O\u2019Leary\u00a0D, Al Julandani\u00a0DA, Zia\u00a0M, Klotsche\u00a0J, Minden\u00a0K, Roderick\u00a0M et\u00a0al. (2023) HLA-B*27 is associated with CNO in a\u00a0European cohort. Pediatr Rheumatol Online\u00a0J 21(1):52","journal-title":"Pediatr Rheumatol Online J"},{"issue":"5 Pt 1","key":"1774_CR12","doi-asserted-by":"publisher","first-page":"732","DOI":"10.1016\/S0190-9622(94)70233-0","volume":"31","author":"H Torii","year":"1994","unstructured":"Torii\u00a0H, Nakagawa\u00a0H, Ishibashi\u00a0Y (1994) Osteoarthritis in 84 Japanese patients with palmoplantar pustulosis. J\u00a0Am Acad Dermatol 31(5 Pt 1):732\u2013735","journal-title":"J Am Acad Dermatol"},{"key":"1774_CR13","doi-asserted-by":"crossref","unstructured":"Costantino F, Talpin A, Said-Nahal R, Goldberg M, Henny J, Chiocchia G et al. Prevalence of spondylarthritis in reference to HLA-B27 in the French population: results of the GAZEL cohort (2015) Ann Rheum Dis 74(4):689\u2013693","DOI":"10.1136\/annrheumdis-2013-204436"},{"issue":"9","key":"1774_CR14","doi-asserted-by":"publisher","first-page":"1286","DOI":"10.1111\/1756-185X.12940","volume":"20","author":"T Moussa","year":"2017","unstructured":"Moussa\u00a0T, Bhat\u00a0V, Kini\u00a0V, Fathalla\u00a0BM (2017) Clinical and genetic association, radiological findings and response to biological therapy in seven children from Qatar with non-bacterial osteomyelitis. Int J Rheum Dis 20(9):1286\u20131296","journal-title":"Int J Rheum Dis"},{"issue":"43","key":"1774_CR15","doi-asserted-by":"publisher","first-page":"29968","DOI":"10.1074\/jbc.M109.023663","volume":"284","author":"J Donkor","year":"2009","unstructured":"Donkor\u00a0J, Zhang\u00a0P, Wong\u00a0S, O\u2019Loughlin\u00a0L, Dewald\u00a0J, Kok\u00a0BP et\u00a0al. (2009) A\u00a0conserved serine residue is required for the phosphatidate phosphatase activity but not the transcriptional coactivator functions of lipin\u20111 and lipin\u20112. J\u00a0Biol Chem 284(43):29968\u201329978","journal-title":"J Biol Chem"},{"issue":"23","key":"1774_CR16","doi-asserted-by":"publisher","first-page":"2426","DOI":"10.1056\/NEJMoa0807865","volume":"360","author":"I Aksentijevich","year":"2009","unstructured":"Aksentijevich\u00a0I, Masters\u00a0SL, Ferguson\u00a0PJ, Dancey\u00a0P, Frenkel\u00a0J, van Royen-Kerkhoff\u00a0A et\u00a0al. (2009) An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N\u00a0Engl J Med 360(23):2426\u20132437","journal-title":"N Engl J Med"},{"issue":"11","key":"1774_CR17","doi-asserted-by":"publisher","first-page":"3259","DOI":"10.1093\/rheumatology\/keaa119","volume":"59","author":"JB Kuemmerle-Deschner","year":"2020","unstructured":"Kuemmerle-Deschner\u00a0JB, Welzel\u00a0T, Hoertnagel\u00a0K, Tsiflikas\u00a0I, Hospach\u00a0A, Liu\u00a0X et\u00a0al. (2020) New variant in the IL1RN-gene (DIRA) associated with late-onset, CRMO-like presentation. Rheumatol 59(11):3259\u20133263","journal-title":"Rheumatol"},{"issue":"3","key":"1774_CR18","doi-asserted-by":"publisher","first-page":"e0169687","DOI":"10.1371\/journal.pone.0169687","volume":"12","author":"AJ Cox","year":"2017","unstructured":"Cox\u00a0AJ, Darbro\u00a0BW, Laxer\u00a0RM, Velez\u00a0G, Bing\u00a0X, Finer\u00a0AL et\u00a0al. (2017) Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO). PLoS ONE 12(3):e169687","journal-title":"PLoS ONE"},{"issue":"5","key":"1774_CR19","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards\u00a0S, Aziz\u00a0N, Bale\u00a0S, Bick\u00a0D, Das\u00a0S, Gastier-Foster\u00a0J et\u00a0al. (2015) Standards and guidelines for the interpretation of sequence variants: a\u00a0joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405\u2013424","journal-title":"Genet Med"},{"issue":"1","key":"1774_CR20","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1186\/s12969-020-00447-4","volume":"18","author":"AP d\u2019Adamo","year":"2020","unstructured":"d\u2019Adamo\u00a0AP, Bianco\u00a0AM, Ferrara\u00a0G, La Bianca\u00a0M, Insalaco\u00a0A, Tommasini\u00a0A et\u00a0al. (2020) High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO). Pediatr Rheumatol Online\u00a0J 18(1):55","journal-title":"Pediatr Rheumatol Online J"},{"issue":"1","key":"1774_CR21","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1186\/s12969-021-00533-1","volume":"19","author":"D O\u2019Leary","year":"2021","unstructured":"O\u2019Leary\u00a0D, Killeen\u00a0OG, Wilson\u00a0AG (2021) Genetics of chronic nonbacterial osteomyelitis in the irish population: no significant association with rare FBLIM1 variants. Pediatr Rheumatol Online\u00a0J 19(1):32","journal-title":"Pediatr Rheumatol Online J"},{"issue":"1","key":"1774_CR22","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1186\/s12881-020-01037-7","volume":"21","author":"G Assmann","year":"2020","unstructured":"Assmann\u00a0G, Kohm\u00a0M, Schuster\u00a0V, Behrens\u00a0F, Mossner\u00a0R, Magnolo\u00a0N et\u00a0al. (2020) Genetic variants in FBLIM1 gene do not contribute to SAPHO syndrome and chronic recurrent multifocal osteomyelitis in typical patient groups. BMC Med Genet 21(1):102","journal-title":"BMC Med Genet"},{"issue":"6","key":"1774_CR23","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1038\/ng.2653","volume":"45","author":"GTEx Consortium","year":"2013","unstructured":"GTEx Consortium (2013) The Genotype-Tissue Expression (GTEx) project. Nat Genet 45(6):580\u2013585","journal-title":"Nat Genet"},{"issue":"6","key":"1774_CR24","doi-asserted-by":"publisher","first-page":"1701","DOI":"10.1016\/j.cell.2018.10.022","volume":"175","author":"BJ Schmiedel","year":"2018","unstructured":"Schmiedel\u00a0BJ, Singh\u00a0D, Madrigal\u00a0A, Valdovino-Gonzalez\u00a0AG, White\u00a0BM, Zapardiel-Gonzalo\u00a0J et\u00a0al. (2018) Impact of Genetic Polymorphisms on Human Immune Cell Gene Expression. Cell 175(6):1701\u201315 e16","journal-title":"Cell"},{"issue":"7","key":"1774_CR25","doi-asserted-by":"publisher","first-page":"1241","DOI":"10.1093\/rheumatology\/kex089","volume":"56","author":"H Furuya","year":"2017","unstructured":"Furuya\u00a0H, Ikeda\u00a0K, Miyachi\u00a0K, Nakamura\u00a0K, Suzuki\u00a0K, Furuta\u00a0S et\u00a0al. (2017) SAPHO syndrome-like presentation of disseminated nontuberculous mycobacterial infection in a\u00a0case with neutralizing anti-IFNgamma autoantibody. Rheumatol 56(7):1241\u20131243","journal-title":"Rheumatol"},{"key":"1774_CR26","doi-asserted-by":"publisher","first-page":"D630","DOI":"10.1093\/nar\/gkl940","volume":"35","author":"JT Eppig","year":"2007","unstructured":"Eppig\u00a0JT, Blake\u00a0JA, Bult\u00a0CJ, Kadin\u00a0JA, Richardson\u00a0JE, Mouse Genome Database\u00a0G (2007) The mouse genome database (MGD): new features facilitating a\u00a0model system. Nucleic Acids Res 35:D630\u20137","journal-title":"Nucleic Acids Res"},{"issue":"3","key":"1774_CR27","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1097\/RHU.0000000000002061","volume":"30","author":"N Karacayir","year":"2024","unstructured":"Karacayir\u00a0N, Tuncez\u00a0S, Oner\u00a0N, Celikel\u00a0E, Baglan\u00a0E, Gezgin-Yildirim\u00a0D et\u00a0al. (2024) Chronic Nonbacterial Osteomyelitis Associated With Familial Mediterranean Fever in Children. J\u00a0Clin Rheumatol 30(3):89\u201393","journal-title":"J Clin Rheumatol"},{"issue":"8","key":"1774_CR28","doi-asserted-by":"publisher","first-page":"e342","DOI":"10.1097\/RHU.0000000000001431","volume":"27","author":"SO Cicek","year":"2021","unstructured":"Cicek\u00a0SO, Sahin\u00a0N, Karaman\u00a0ZF, Taskin\u00a0SN, Kisaarslan\u00a0AP, Gunduz\u00a0Z et\u00a0al. (2021) The Possible Relationship Between Familial Mediterranean Fever and Chronic Nonbacterial Osteomyelitis: Coincidence or Coexistence? J\u00a0Clin Rheumatol 27(8):e342\u2013e8","journal-title":"J Clin Rheumatol"},{"issue":"2","key":"1774_CR29","doi-asserted-by":"publisher","first-page":"855","DOI":"10.1007\/s10067-025-07306-1","volume":"44","author":"B Oksuz Aydin","year":"2025","unstructured":"Oksuz Aydin\u00a0B, Aydin\u00a0F, Tas\u00a0O, Bahceci\u00a0O, Ozcakar\u00a0ZB (2025) Associated diseases and their effects on disease course in patients with chronic non-bacterial osteomyelitis: retrospective experience from a\u00a0single center. Clin Rheumatol 44(2):855\u2013862","journal-title":"Clin Rheumatol"},{"issue":"5","key":"1774_CR30","doi-asserted-by":"publisher","first-page":"1535","DOI":"10.1007\/s10067-022-06082-6","volume":"41","author":"PO Avar-Aydin","year":"2022","unstructured":"Avar-Aydin\u00a0PO, Ozcakar\u00a0ZB, Aydin\u00a0F, Karakas\u00a0HD, Cakar\u00a0N, Yalcinkaya\u00a0F (2022) The expanded spectrum of arthritis in children with familial Mediterranean fever. Clin Rheumatol 41(5):1535\u20131541","journal-title":"Clin Rheumatol"}],"container-title":["Zeitschrift f\u00fcr Rheumatologie"],"original-title":[],"language":"de","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00393-025-01774-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00393-025-01774-1","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00393-025-01774-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,2]],"date-time":"2026-03-02T15:29:30Z","timestamp":1772465370000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00393-025-01774-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,21]]},"references-count":30,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["1774"],"URL":"https:\/\/doi.org\/10.1007\/s00393-025-01774-1","relation":{},"ISSN":["0340-1855","1435-1250"],"issn-type":[{"value":"0340-1855","type":"print"},{"value":"1435-1250","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,21]]},"assertion":[{"value":"8 October 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 December 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 January 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Einhaltung ethischer Richtlinien"}},{"value":"M.\u00a0Deen Hayatu und U.\u00a0H\u00fcffmeier geben an, dass kein Interessenkonflikt besteht.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}},{"value":"F\u00fcr diesen Beitrag wurden von den Autor\/-innen keine Studien an Menschen oder Tieren durchgef\u00fchrt. F\u00fcr die aufgef\u00fchrten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}}]}}