{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T12:54:57Z","timestamp":1777121697345,"version":"3.51.4"},"reference-count":18,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP22K07887"],"award-info":[{"award-number":["JP22K07887"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Immunology"],"published-print":{"date-parts":[[2022,9]]},"DOI":"10.1016\/j.clim.2022.109104","type":"journal-article","created":{"date-parts":[[2022,8,27]],"date-time":"2022-08-27T11:58:14Z","timestamp":1661601494000},"page":"109104","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"special_numbering":"C","title":["Recurrent tandem duplication of UNC13D in familial hemophagocytic lymphohistiocytosis type 3"],"prefix":"10.1016","volume":"242","author":[{"given":"Dan","family":"Tomomasa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eitaro","family":"Hiejima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takayuki","family":"Miyamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kay","family":"Tanita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaki","family":"Matsuoka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daiki","family":"Niizato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriko","family":"Mitsuiki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Isoda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takahiro","family":"Yasumi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Menno C.","family":"van Zelm","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomohiro","family":"Morio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirokazu","family":"Kanegane","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.clim.2022.109104_bb0005","doi-asserted-by":"crossref","first-page":"507","DOI":"10.5858\/arpa.2020-0802-RA","article-title":"Hemophagocytic lymphohistiocytosis","volume":"146","author":"Ponnatt","year":"2022","journal-title":"Arch Pathol Lab Med."},{"key":"10.1016\/j.clim.2022.109104_bb0010","doi-asserted-by":"crossref","first-page":"e14173","DOI":"10.1371\/journal.pone.0014173","article-title":"Subtypes of familial Hemophagocytic Lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes","volume":"5","author":"Nagai","year":"2010","journal-title":"PLoS One"},{"key":"10.1016\/j.clim.2022.109104_bb0015","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1111\/pai.13323","article-title":"Clinical, immunological and genetic findings in patients with UNC13D deficiency (FHL3): a systematic review","volume":"32","author":"Amirifar","year":"2021","journal-title":"Pediatr. Allergy Immunol."},{"key":"10.1016\/j.clim.2022.109104_bb0020","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.clim.2018.03.012","article-title":"Characterization of a large UNC13D gene duplication in a patient with familial hemophagocytic lymphohistiocytosis type 3","volume":"191","author":"Hiejima","year":"2018","journal-title":"Clin. Immunol."},{"key":"10.1016\/j.clim.2022.109104_bb0025","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1182\/blood-2011-01-329540","article-title":"Rapid diagnosis of FHL3 by flow cytometric detection of intraplatelet Munc13-4 protein","volume":"118","author":"Murata","year":"2011","journal-title":"Blood."},{"key":"10.1016\/j.clim.2022.109104_bb0030","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/j.ajhg.2007.10.011","article-title":"Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements","volume":"82","author":"van Zelm","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.clim.2022.109104_bb0035","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1038\/nrg798","article-title":"Alu repeats and human genomic diversity","volume":"3","author":"Batzer","year":"2002","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.clim.2022.109104_bb0040","doi-asserted-by":"crossref","first-page":"3059","DOI":"10.1084\/jem.20071637","article-title":"Alu elements mediate MYB gene tandem duplication in human T-ALL","volume":"204","author":"O\u2019Neil","year":"2007","journal-title":"J. Exp. Med."},{"key":"10.1016\/j.clim.2022.109104_bb0045","first-page":"4277","article-title":"ALL-1 tandem duplication in acute myeloid leukemia with a normal karyotype involves homologous recombination between Alu elements","volume":"54","author":"Schichman","year":"1994","journal-title":"Cancer Res."},{"key":"10.1016\/j.clim.2022.109104_bb0050","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/j.ymgme.2007.07.007","article-title":"Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency","volume":"92","author":"Fukao","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.clim.2022.109104_bb0055","doi-asserted-by":"crossref","first-page":"2471","DOI":"10.1002\/j.1460-2075.1991.tb07786.x","article-title":"Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination","volume":"10","author":"Hu","year":"1991","journal-title":"EMBO J."},{"key":"10.1016\/j.clim.2022.109104_bb0060","doi-asserted-by":"crossref","first-page":"1639","DOI":"10.1016\/j.molimm.2006.08.003","article-title":"Characterization of novel Bruton\u2019s tyrosine kinase gene mutations in central European patients with agammaglobulinemia","volume":"44","author":"Kristufek","year":"2007","journal-title":"Mol. Immunol."},{"key":"10.1016\/j.clim.2022.109104_bb0065","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1007\/s10875-018-0527-6","article-title":"A variety of Alu-mediated copy number variations can underlie IL-12R\u03b21 deficiency","volume":"38","author":"Rosain","year":"2018","journal-title":"J. Clin. Immunol."},{"key":"10.1016\/j.clim.2022.109104_bb0070","doi-asserted-by":"crossref","first-page":"5783","DOI":"10.1182\/blood-2011-07-369090","article-title":"Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D","volume":"118","author":"Meeths","year":"2011","journal-title":"Blood."},{"key":"10.1016\/j.clim.2022.109104_bb0075","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.3324\/haematol.12622","article-title":"Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3","volume":"93","author":"Santoro","year":"2008","journal-title":"Haematologica."},{"key":"10.1016\/j.clim.2022.109104_bb0080","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1002\/humu.20274","article-title":"Mutation Spectrum in children with primary Hemophagocytic Lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, andRAB27A","volume":"27","author":"Zur Stadt","year":"2006","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.clim.2022.109104_bb0085","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1136\/jmg.2010.085456","article-title":"Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3","volume":"48","author":"Sieni","year":"2011","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.clim.2022.109104_bb0090","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1016\/j.jaci.2015.06.048","article-title":"Genetic predisposition to hemophagocytic lymphohistiocytosis: report on 500 patients from the Italian registry","volume":"137","author":"Cetica","year":"2016","journal-title":"J. Allergy Clin. Immunol."}],"container-title":["Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521661622001851?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521661622001851?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T16:07:10Z","timestamp":1761494830000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521661622001851"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9]]},"references-count":18,"alternative-id":["S1521661622001851"],"URL":"https:\/\/doi.org\/10.1016\/j.clim.2022.109104","relation":{},"ISSN":["1521-6616"],"issn-type":[{"value":"1521-6616","type":"print"}],"subject":[],"published":{"date-parts":[[2022,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Recurrent tandem duplication of UNC13D in familial hemophagocytic lymphohistiocytosis type 3","name":"articletitle","label":"Article Title"},{"value":"Clinical Immunology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clim.2022.109104","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"109104"}}