{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T20:44:55Z","timestamp":1792097095252,"version":"4.4.0"},"reference-count":15,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100005743","name":"Universit\u00e0 Cattolica del Sacro Cuore","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005743","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":["Immunology Letters"],"published-print":{"date-parts":[[2020,9]]},"DOI":"10.1016\/j.imlet.2020.06.012","type":"journal-article","created":{"date-parts":[[2020,6,24]],"date-time":"2020-06-24T11:59:36Z","timestamp":1592999976000},"page":"64-65","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":14,"special_numbering":"C","title":["Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant)"],"prefix":"10.1016","volume":"225","author":[{"given":"Donato","family":"Rigante","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilia","family":"Stellacci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Leoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Onesimo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca Clementina","family":"Radio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Pizzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Giorgio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Assunta","family":"Tornesello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Tartaglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Zampino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.imlet.2020.06.012_bib0005","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1016\/j.jmb.2006.12.016","article-title":"A splice variant of the human CCA-adding enzyme with modified activity","volume":"366","author":"Lizano","year":"2007","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.imlet.2020.06.012_bib0010","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1182\/blood-2012-08-439083","article-title":"A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)","volume":"122","author":"Wiseman","year":"2013","journal-title":"Blood"},{"key":"10.1016\/j.imlet.2020.06.012_bib0015","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1080\/1744666X.2017.1280396","article-title":"A systematic approach to autoinflammatory syndromes: a spelling booklet for the beginner","volume":"13","author":"Rigante","year":"2017","journal-title":"Expert Rev. Clin. Immunol."},{"key":"10.1016\/j.imlet.2020.06.012_bib0020","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1016\/j.ajhg.2018.09.001","article-title":"Mutations in KCNK4 that affect gating cause a recognizable neurodevelopmental syndrome","volume":"103","author":"Bauer","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.imlet.2020.06.012_bib0025","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/j.ajhg.2019.07.007","article-title":"Aberrant function of the C-terminal tail of HIST1H1E accelerates cellular senescence and causes premature aging","volume":"105","author":"Flex","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.imlet.2020.06.012_bib0030","doi-asserted-by":"crossref","DOI":"10.1002\/0471250953.bi1110s43","article-title":"From fastQ data to high-confidence variant calls: the genome analysis toolkit best practices pipeline","volume":"43","author":"Van der Auwera","year":"2013","journal-title":"Curr. Protoc. Bioinformatics"},{"key":"10.1016\/j.imlet.2020.06.012_bib0035","doi-asserted-by":"crossref","first-page":"2867","DOI":"10.1182\/blood-2014-08-591370","article-title":"Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)","volume":"124","author":"Chakraborty","year":"2014","journal-title":"Blood"},{"key":"10.1016\/j.imlet.2020.06.012_bib0040","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1007\/s00281-015-0493-5","article-title":"New monogenic autoinflammatory diseases-a clinical overview","volume":"37","author":"Canna","year":"2015","journal-title":"Semin. Immunopathol."},{"key":"10.1016\/j.imlet.2020.06.012_bib0045","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1186\/s13023-016-0477-0","article-title":"TRNT1 deficiency: clinical, biochemical and molecular genetic features","volume":"11","author":"Wedatilake","year":"2016","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.imlet.2020.06.012_bib0050","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1136\/jclinpath-2017-204698","article-title":"SIFD as a novel cause of severe fetal hydrops and neonatal anaemia with iron loading and marked extramedullary haemopoiesis","volume":"71","author":"Barton","year":"2018","journal-title":"J. Clin. Pathol."},{"key":"10.1016\/j.imlet.2020.06.012_bib0055","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1001\/jamaophthalmol.2015.5833","article-title":"Expanding the phenotype of TRNT1-related immunodeficiency to include childhood cataract and inner retinal dysfunction","volume":"134","author":"Hull","year":"2016","journal-title":"JAMA Ophthalmol."},{"key":"10.1016\/j.imlet.2020.06.012_bib0060","doi-asserted-by":"crossref","first-page":"2389","DOI":"10.1002\/ajmg.a.37681","article-title":"Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A","volume":"170","author":"Stellacci","year":"2016","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.imlet.2020.06.012_bib0065","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1007\/s12185-019-02614-0","article-title":"Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency","volume":"109","author":"Kumaki","year":"2019","journal-title":"Int. J. Hematol."},{"key":"10.1016\/j.imlet.2020.06.012_bib0070","doi-asserted-by":"crossref","first-page":"485103","DOI":"10.1155\/2013\/485103","article-title":"From the Mediterranean to the sea of Japan: the transcontinental odyssey of autoinflammatory diseases","volume":"2013","author":"Rigante","year":"2013","journal-title":"Biomed Res. Int."},{"key":"10.1016\/j.imlet.2020.06.012_bib0075","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1136\/annrheumdis-2017-212401","article-title":"Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors","volume":"77","author":"Giannelou","year":"2018","journal-title":"Ann. Rheum. Dis."}],"container-title":["Immunology Letters"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0165247820303370?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0165247820303370?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T07:37:15Z","timestamp":1759045035000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0165247820303370"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9]]},"references-count":15,"alternative-id":["S0165247820303370"],"URL":"https:\/\/doi.org\/10.1016\/j.imlet.2020.06.012","relation":{},"ISSN":["0165-2478"],"issn-type":[{"value":"0165-2478","type":"print"}],"subject":[],"published":{"date-parts":[[2020,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant)","name":"articletitle","label":"Article Title"},{"value":"Immunology Letters","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.imlet.2020.06.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 European Federation of Immunological Societies. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}