{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T13:00:23Z","timestamp":1788872423780,"version":"build-2803163510"},"reference-count":41,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2015,7,26]],"date-time":"2015-07-26T00:00:00Z","timestamp":1437868800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["AR059049"],"award-info":[{"award-number":["AR059049"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["AR048929"],"award-info":[{"award-number":["AR048929"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["HL119986"],"award-info":[{"award-number":["HL119986"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arthritis Care &amp; Research"],"published-print":{"date-parts":[[2015,8]]},"DOI":"10.1002\/acr.22527","type":"journal-article","created":{"date-parts":[[2014,12,2]],"date-time":"2014-12-02T20:38:06Z","timestamp":1417552686000},"page":"1173-1179","source":"Crossref","is-referenced-by-count":22,"title":["11\u2010Month\u2010Old Infant With Periodic Fevers, Recurrent Liver Dysfunction, and Perforin Gene Polymorphism"],"prefix":"10.1002","volume":"67","author":[{"given":"Grant S.","family":"Schulert","sequence":"first","affiliation":[{"name":"Cincinnati Children's Hospital Medical Center Cincinnati Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Bove","sequence":"additional","affiliation":[{"name":"Cincinnati Children's Hospital Medical Center Cincinnati Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"McMasters","sequence":"additional","affiliation":[{"name":"Cincinnati Children's Hospital Medical Center Cincinnati Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen","family":"Campbell","sequence":"additional","affiliation":[{"name":"Cincinnati Children's Hospital Medical Center Cincinnati Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"Leslie","sequence":"additional","affiliation":[{"name":"Cincinnati Children's Hospital Medical Center Cincinnati Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexei A.","family":"Grom","sequence":"additional","affiliation":[{"name":"Cincinnati Children's Hospital Medical Center Cincinnati Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,7,26]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2013-303848"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1233533"},{"key":"e_1_2_9_4_1","doi-asserted-by":"crossref","first-page":"897","DOI":"10.2174\/138920111795542697","article-title":"New agents and approaches to treatment in Niemann\u2010Pick type C disease","volume":"12","author":"Perez\u2010Poyato MS","year":"2011","journal-title":"Curr Pharm Biotechnol"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-013-9610-6"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2007.03.016"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.2350\/11-02-0985-OA.1"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-6143.2011.03989.x"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/fn.89.1.F90"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980806)78:5<408::AID-AJMG3>3.0.CO;2-H"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.immunol.25.022106.141627"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2012.09.011"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/ACI.0b013e32834c22f5"},{"key":"e_1_2_9_14_1","first-page":"927","article-title":"Growing pains: the ILAR classification of juvenile idiopathic arthritis","volume":"28","author":"Petty RE.","year":"2001","journal-title":"J Rheumatol"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrrheum.2011.68"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gene.2012.3"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.10550"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molimm.2007.12.008"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.22194"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2011-201268"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0b013e318190cfb7"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000115390.33405.F7"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20361"},{"key":"e_1_2_9_24_1","unstructured":"TouitouI.Infevers: an online database for autoinflammatory mutations. 2014. URL:http:\/\/fmf.igh.cnrs.fr\/ISSAID\/infevers\/."},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.22409"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2010-3639"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1097\/00002281-200309000-00011"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.21039"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.3109\/s10165-011-0442-7"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2011.06307.x"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/kep418"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-07-370148"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2003.110"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.23199"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.23734"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11926-014-0439-2"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.38793"},{"issue":"1","key":"e_1_2_9_38_1","doi-asserted-by":"crossref","first-page":"P53","DOI":"10.1186\/1546-0096-12-S1-P53","article-title":"Mutations of familial hemophagocytic lymphohistiocytosis (FHL) related genes and abnormalities of cytotoxicity function tests in patients with macrophage activation syndrome (MAS) occurring in systemic juvenile idiopathic arthritis (sJIA)","author":"Bracaglia C","year":"2014","journal-title":"Pediatr Rheumatol Online J"},{"issue":"77","key":"e_1_2_9_39_1","first-page":"99","article-title":"Macrophage activation syndrome as the initial manifestation of tumour necrosis factor receptor 1\u2010associated periodic syndrome (TRAPS)","volume":"31","author":"Horneff G","year":"2013","journal-title":"Clin Exp Rheumatol"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.38345"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.berh.2014.03.002"},{"key":"e_1_2_9_42_1","doi-asserted-by":"crossref","first-page":"1461","DOI":"10.1002\/ajmg.a.33915","article-title":"Significant liver disease in a patient with Y116H mutation in the MVK gene","volume":"155","author":"Leyva\u2010Vega M","year":"2011","journal-title":"Am J Med Gen Part A"}],"container-title":["Arthritis Care &amp; Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Facr.22527","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/acrjournals.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acr.22527","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,2]],"date-time":"2025-10-02T15:24:52Z","timestamp":1759418692000},"score":1,"resource":{"primary":{"URL":"https:\/\/acrjournals.onlinelibrary.wiley.com\/doi\/10.1002\/acr.22527"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,7,26]]},"references-count":41,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2015,8]]}},"alternative-id":["10.1002\/acr.22527"],"URL":"https:\/\/doi.org\/10.1002\/acr.22527","archive":["Portico"],"relation":{},"ISSN":["2151-464X","2151-4658"],"issn-type":[{"value":"2151-464X","type":"print"},{"value":"2151-4658","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,7,26]]}}}