{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T23:34:26Z","timestamp":1782344066244,"version":"3.54.5"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2019,1,31]],"date-time":"2019-01-31T00:00:00Z","timestamp":1548892800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Int J Hematol"],"published-print":{"date-parts":[[2019,6]]},"DOI":"10.1007\/s12185-019-02595-0","type":"journal-article","created":{"date-parts":[[2019,1,31]],"date-time":"2019-01-31T14:55:45Z","timestamp":1548946545000},"page":"744-750","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Identification of a novel CCDC22 mutation in a patient with severe Epstein\u2013Barr virus-associated hemophagocytic lymphohistiocytosis and aggressive natural killer cell leukemia"],"prefix":"10.1007","volume":"109","author":[{"given":"Yusuke","family":"Yamashita","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akinori","family":"Nishikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshifumi","family":"Iwahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masakazu","family":"Fujimoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Izumi","family":"Sasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Mishima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Kinoshita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroaki","family":"Hemmi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuo","family":"Kanazawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kouichi","family":"Ohshima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken-Ichi","family":"Imadome","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin-ichi","family":"Murata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koh-ichiro","family":"Yoshiura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsuneyasu","family":"Kaisho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Sonoki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinobu","family":"Tamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,1,31]]},"reference":[{"key":"2595_CR1","doi-asserted-by":"publisher","first-page":"763","DOI":"10.1038\/sj.leu.2403262","volume":"18","author":"R Suzuki","year":"2004","unstructured":"Suzuki R, Suzumiya J, Nakamura S, Aoki S, Notoya A, Ozaki S, et al. Aggressive natural killer-cell leukemia revisited: large granular lymphocyte leukemia of cytotoxic NK cells. Leukemia. 2004;18:763\u201370.","journal-title":"Leukemia"},{"key":"2595_CR2","doi-asserted-by":"publisher","first-page":"1032","DOI":"10.1093\/annonc\/mdp418","volume":"21","author":"R Suzuki","year":"2010","unstructured":"Suzuki R, Suzumiya J, Yamaguchi M, Nakamura S, Kameoka J, Kojima H, et al. Prognostic factors for mature natural killer (NK) cell neoplasms: aggressive NK cell leukemia and extranodal NK cell lymphoma, nasal type. Ann Oncol. 2010;21:1032\u201340.","journal-title":"Ann Oncol"},{"key":"2595_CR3","first-page":"353","volume-title":"WHO classification of tumours of haematopoietic and lymphoid tissues","author":"L Quintanilla-Martinez","year":"2016","unstructured":"Quintanilla-Martinez L, Ko Y-H, Kimura H, Jaffe ES. Aggressive NK-cell leukemia. In: Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H et al, editors. WHO classification of tumours of haematopoietic and lymphoid tissues. Lyon: IARC; 2016. pp.\u00a0353\u20134."},{"key":"2595_CR4","doi-asserted-by":"publisher","first-page":"853","DOI":"10.1016\/j.bbmt.2017.01.082","volume":"23","author":"M Hamadani","year":"2017","unstructured":"Hamadani M, Kanate AS, DiGilio A, Ahn KW, Smith SM, Lee JW, et al. Allogeneic hematopoietic cell transplantation for aggressive NK cell leukemia. A Center for International Blood and Marrow Transplant Research Analysis. Biol Blood Marrow Transplant. 2017;23:853\u20136.","journal-title":"Biol Blood Marrow Transplant"},{"key":"2595_CR5","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1182\/blood-2011-10-381921","volume":"119","author":"H Kimura","year":"2012","unstructured":"Kimura H, Ito Y, Kawabe S, Gotoh K, Takahashi Y, Kojima S, et al. EBV-associated T\/NK-cell lymphoproliferative diseases in nonimmunocompromised hosts: prospective analysis of 108 cases. Blood. 2012;119:673\u201386.","journal-title":"Blood"},{"key":"2595_CR6","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1002\/pbc.21039","volume":"48","author":"JI Henter","year":"2007","unstructured":"Henter JI, Horne A, Aric\u00f3 M, Egeler RM, Filipovich AH, Imashuku S. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48:124\u201331.","journal-title":"Pediatr Blood Cancer"},{"key":"2595_CR7","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1002\/pbc.22310","volume":"54","author":"S Ohga","year":"2010","unstructured":"Ohga S, Kudo K, Ishii E, Honjo S, Morimoto A, Osugi Y, et al. Hematopoietic stem cell transplantation for familial hemophagocytic lymphohistiocytosis and Epstein\u2013Barr virus-associated hemophagocytic lymphohistiocytosis in Japan. Pediatr Blood Cancer. 2010;54:299\u2013306.","journal-title":"Pediatr Blood Cancer"},{"key":"2595_CR8","first-page":"5738","volume":"7","author":"MC Smith","year":"2014","unstructured":"Smith MC, Cohen DN, Greig B, Yenamandra A, Vnencak-Jones C, Thompson MA, et al. The ambiguous boundary between EBV-related hemophagocytic lymphohistiocytosis and systemic EBV-driven T cell lymphoproliferative disorder. Int J Clin Exp Pathol. 2014;7:5738\u201349.","journal-title":"Int J Clin Exp Pathol"},{"key":"2595_CR9","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1080\/10428194.2016.1179297","volume":"58","author":"JH Paik","year":"2017","unstructured":"Paik JH, Choe JY, Kim H, Lee JO, Kang HJ, Shin HY, et al. Clinicopathological categorization of Epstein-Barr virus-positive T\/NK-cell lymphoproliferative disease: an analysis of 42 cases with an emphasis on prognostic implications. Leuk Lymphoma. 2017;58:53\u201363.","journal-title":"Leuk Lymphoma"},{"key":"2595_CR10","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1038\/mp.2011.95","volume":"17","author":"I Voineagu","year":"2012","unstructured":"Voineagu I, Huang L, Winden K, Lazaro M, Haan E, Nelson J, et al. CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. Mol Psychiatry. 2012;17:4\u20137.","journal-title":"Mol Psychiatry"},{"key":"2595_CR11","doi-asserted-by":"publisher","first-page":"2244","DOI":"10.1172\/JCI66466","volume":"123","author":"P Starokadomskyy","year":"2013","unstructured":"Starokadomskyy P, Gluck N, Li H, Chen B, Wallis M, Maine GN, et al. CCDC22 deficiency in humans blunts activation of proinflammatory NF-\u03baB signaling. J Clin Invest. 2013;123:2244\u201356.","journal-title":"J Clin Invest"},{"key":"2595_CR12","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1091\/mbc.e14-06-1073","volume":"26","author":"CA Phillips-Krawczak","year":"2015","unstructured":"Phillips-Krawczak CA, Singla A, Starokadomskyy P, Deng Z, Osborne DG, Li H, et al. COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A. Mol Biol Cell. 2015;26:91\u2013103.","journal-title":"Mol Biol Cell"},{"key":"2595_CR13","doi-asserted-by":"publisher","first-page":"10961","DOI":"10.1038\/ncomms10961","volume":"7","author":"P Bartuzi","year":"2016","unstructured":"Bartuzi P, Billadeau DD, Favier R, Rong S, Dekker D, Fedoseienko A, et al. CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL. Nat Commun. 2016;7:10961.","journal-title":"Nat Commun"},{"key":"2595_CR14","doi-asserted-by":"publisher","first-page":"1340","DOI":"10.1086\/466530","volume":"192","author":"K Imadome","year":"2005","unstructured":"Imadome K, Shimizu N, Arai A, Miura O, Watanabe K, Nakamura H, et al. Coexpression of CD40 and CD40 ligand in Epstein\u2013Barr virus-infected T and NK cells and their role in cell survival. J Infect Dis. 2005;192:1340\u20138.","journal-title":"J Infect Dis"},{"key":"2595_CR15","doi-asserted-by":"publisher","first-page":"628","DOI":"10.1007\/s12185-016-2062-7","volume":"104","author":"L Fu","year":"2016","unstructured":"Fu L, Wang J, Wei N, Wu L, Wang Y, Huang W, et al. Allogeneic hematopoietic stem-cell transplantation for adult and adolescent hemophagocytic lymphohistiocytosis: a single center analysis. Int J Hematol. 2016;104:628\u201335.","journal-title":"Int J Hematol"},{"key":"2595_CR16","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1002\/ajh.23190","volume":"87","author":"M Nishi","year":"2012","unstructured":"Nishi M, Nishimura R, Suzuki N, Sawada A, Okamura T, Fujita N, et al. Reduced-intensity conditioning in unrelated donor cord blood transplantation for familial hemophagocytic lymphohistiocytosis. Am J Hematol. 2012;87:637\u20139.","journal-title":"Am J Hematol"},{"key":"2595_CR17","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1016\/j.clim.2015.07.004","volume":"160","author":"S Tamura","year":"2015","unstructured":"Tamura S, Higuchi K, Tamaki M, Inoue C, Awazawa R, Mitsuki N, et al. Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency. Clin Immunol. 2015;160:255\u201360.","journal-title":"Clin Immunol"},{"key":"2595_CR18","doi-asserted-by":"publisher","first-page":"540","DOI":"10.1007\/s12185-016-2131-y","volume":"105","author":"S Haji","year":"2017","unstructured":"Haji S, Shiratsuchi M, Matsushima T, Takamatsu A, Tsuda M, Tsukamoto Y, et al. Achievement of disease control with donor-derived EB virus-specific cytotoxic T cells after allogeneic peripheral blood stem cell transplantation for aggressive NK-cell leukemia. Int J Hematol. 2017;105:540\u20134.","journal-title":"Int J Hematol"},{"key":"2595_CR19","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1186\/s13045-016-0317-7","volume":"9","author":"J Wang","year":"2016","unstructured":"Wang J, Wang Y, Wu L, Zhang J, Lai W, Wang Z. PEG-aspargase and DEP regimen combination therapy for refractory Epstein\u2013Barr virus-associated hemophagocytic lymphohistiocytosis. J Hematol Oncol. 2016;9:84.","journal-title":"J Hematol Oncol"},{"key":"2595_CR20","doi-asserted-by":"publisher","first-page":"721","DOI":"10.1002\/ajh.21247","volume":"83","author":"E Sato","year":"2008","unstructured":"Sato E, Ohga S, Kuroda H, Yoshiba F, Nishimura M, Nagasawa M, et al. Allogeneic hematopoietic stem cell transplantation for Epstein-Barr virus-associated T\/natural killer-cell lymphoproliferative disease in Japan. Am J Hematol. 2008;83:721\u20137.","journal-title":"Am J Hematol"},{"key":"2595_CR21","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1111\/j.1600-0609.2008.01090.x","volume":"81","author":"T Ito","year":"2008","unstructured":"Ito T, Makishima H, Nakazawa H, Kobayashi H, Shimodaira S, Nakazawa Y, et al. Promising approach for aggressive NK cell leukaemia with allogeneic haematopoietic cell transplantation. Eur J Haematol. 2008;81:107\u201311.","journal-title":"Eur J Haematol"},{"key":"2595_CR22","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1186\/s13045-016-0271-4","volume":"9","author":"KS Jung","year":"2016","unstructured":"Jung KS, Cho SH, Kim SJ, Ko YH, Kang ES, Kim WS. L-asparaginase-based regimens followed by allogeneic hematopoietic stem cell transplantation improve outcomes in aggressive natural killer cell leukemia. J Hematol Oncol. 2016;9:41.","journal-title":"J Hematol Oncol"},{"key":"2595_CR23","doi-asserted-by":"publisher","first-page":"633","DOI":"10.1038\/ejhg.2014.109","volume":"23","author":"M Kolanczyk","year":"2015","unstructured":"Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, et al. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel\/3C syndrome. Eur J Hum Genet. 2015;23:633\u20138.","journal-title":"Eur J Hum Genet"},{"key":"2595_CR24","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780195118612.001.0001","volume-title":"Syndromes of the head and neck","author":"RJ Gorlin","year":"2001","unstructured":"Gorlin RJ, Cohen M, Hennekam RCM (2001) Syndromes of the head and neck. 4th ed. Oxford: Oxford University Press.","edition":"4"},{"key":"2595_CR25","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1007\/s10875-016-0306-1","volume":"36","author":"H Boztug","year":"2016","unstructured":"Boztug H, Hirschmugl T, Holter W, Lakatos K, Kager L, Trapin D, et al. NF-\u03baB1 haploinsufficiency causing immunodeficiency and EBV-driven lymphoproliferation. J Clin Immunol. 2016;36:533\u201340.","journal-title":"J Clin Immunol"}],"container-title":["International Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12185-019-02595-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12185-019-02595-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12185-019-02595-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,14]],"date-time":"2024-07-14T13:12:34Z","timestamp":1720962754000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12185-019-02595-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,31]]},"references-count":25,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2019,6]]}},"alternative-id":["2595"],"URL":"https:\/\/doi.org\/10.1007\/s12185-019-02595-0","relation":{},"ISSN":["0925-5710","1865-3774"],"issn-type":[{"value":"0925-5710","type":"print"},{"value":"1865-3774","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,1,31]]},"assertion":[{"value":"5 October 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 December 2018","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 January 2019","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 January 2019","order":4,"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 no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}