{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,6]],"date-time":"2025-05-06T05:09:10Z","timestamp":1746508150551,"version":"3.37.3"},"reference-count":7,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,11,13]],"date-time":"2019-11-13T00:00:00Z","timestamp":1573603200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2019,11,13]],"date-time":"2019-11-13T00:00:00Z","timestamp":1573603200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"published-print":{"date-parts":[[2020,1]]},"DOI":"10.1007\/s10875-019-00715-3","type":"journal-article","created":{"date-parts":[[2019,11,13]],"date-time":"2019-11-13T14:02:41Z","timestamp":1573653761000},"page":"236-239","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel Missense Mutation inSP110Associated with Combined Immunodeficiency and Advanced Liver Disease Without VOD"],"prefix":"10.1007","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4772-0799","authenticated-orcid":false,"given":"Ottavia M.","family":"Delmonte","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabian","family":"Baldin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadia","family":"Ovchinsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florian","family":"Marquardsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mike","family":"Recher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luigi D.","family":"Notarangelo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Slawomir M.","family":"Kosinski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2019,11,13]]},"reference":[{"key":"715_CR1","doi-asserted-by":"publisher","first-page":"620","DOI":"10.1038\/ng1780","volume":"38","author":"T Roscioli","year":"2006","unstructured":"Roscioli T, Cliffe ST, Bloch DB, Bell CG, Mullan G, Taylor PJ, et al. Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease. Nat Genet. 2006;38:620\u20132.","journal-title":"Nat Genet"},{"key":"715_CR2","doi-asserted-by":"publisher","first-page":"735","DOI":"10.1016\/j.jaci.2012.02.054","volume":"130","author":"ST Cliffe","year":"2012","unstructured":"Cliffe ST, et al. Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome. J Allergy Clin Immunol. 2012;130:735\u201342.","journal-title":"J Allergy Clin Immunol"},{"key":"715_CR3","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1016\/j.clim.2012.07.016","volume":"145","author":"T Wang","year":"2012","unstructured":"Wang T, Ong P, Roscioli T, Cliffe ST, Church JA. Hepatic venoocclusive disease with immunodeficiency (VODI): first reported case in the U.S. and identification of a unique mutation in Sp110. Clin Immunol. 2012;145:102\u20137.","journal-title":"Clin Immunol"},{"key":"715_CR4","doi-asserted-by":"publisher","first-page":"250","DOI":"10.1111\/pai.12051","volume":"24","author":"H Ganaiem","year":"2013","unstructured":"Ganaiem H, Eisenstein EM, Tenenbaum A, Somech R, Simanovsky N, Roscioli T, et al. The role of hematopoietic stem cell transplantation in SP110 associated veno-occlusive disease with immunodeficiency syndrome. Pediatr Allergy Immunol. 2013;24:250\u20136.","journal-title":"Pediatr Allergy Immunol"},{"key":"715_CR5","doi-asserted-by":"publisher","first-page":"6138","DOI":"10.1128\/MCB.20.16.6138-6146.2000","volume":"20","author":"DB Bloch","year":"2000","unstructured":"Bloch DB, et al. Sp110 localizes to the PML-Sp110 nuclear body and may function as a nuclear hormone receptor transcriptional coactivator. Mol Cell Biochem. 2000;20:6138\u201346.","journal-title":"Mol Cell Biochem"},{"issue":"7","key":"715_CR6","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1007\/s10875-017-0431-5","volume":"37","author":"FA Marquardsen","year":"2017","unstructured":"Marquardsen FA, Baldin F, Wunderer F, al-Herz W, Mikhael R, Lefranc G, et al. Detection of Sp110 by flow cytometry and application to screening patients for veno-occlusive disease with immunodeficiency. J Clin Immunol. 2017;37(7):707\u201314.","journal-title":"J Clin Immunol"},{"issue":"16","key":"715_CR7","doi-asserted-by":"publisher","first-page":"6366","DOI":"10.1523\/JNEUROSCI.5126-14.2015","volume":"35","author":"DI Scheffer","year":"2015","unstructured":"Scheffer DI, Shen J, Corey DP, Chen ZY. Gene expression by mouse inner ear hair cells during development. J Neurosci. 2015;35(16):6366\u201380.","journal-title":"J Neurosci"}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-019-00715-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10875-019-00715-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-019-00715-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,11,12]],"date-time":"2020-11-12T00:38:22Z","timestamp":1605141502000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10875-019-00715-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,13]]},"references-count":7,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,1]]}},"alternative-id":["715"],"URL":"https:\/\/doi.org\/10.1007\/s10875-019-00715-3","relation":{},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"type":"print","value":"0271-9142"},{"type":"electronic","value":"1573-2592"}],"subject":[],"published":{"date-parts":[[2019,11,13]]},"assertion":[{"value":"6 September 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 October 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 November 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"The authors declare that they have no conflicts of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}