{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:39:48Z","timestamp":1745469588931,"version":"3.40.4"},"reference-count":24,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Haematol"],"published-print":{"date-parts":[[2010]]},"abstract":"<i>Objective:<\/i> This study examined whether genetic polymorphisms in cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4), a negative regulator of T cells, are associated with infection-associated hemophagocytic lymphohistiocytosis (IHLH) in Japanese children. <i>Methods:<\/i> We investigated the alleles of four polymorphisms in the CTLA-4 gene [\u2013318CT, +49AG, CT60 and a dinucleotide repeat length polymorphism (AT)n] in 43 Japanese children with IHLH and 100 healthy Japanese controls. The hyper-polymorphic (AT)n alleles were divided into two types; the shortest allele (designated as AT<sub>7<\/sub>) and the longer alleles (designated as AT<sub>><\/sub><sub>7<\/sub>). <i>Results:<\/i> A significant difference in the distribution of the (AT)n genotype was found between patients and controls (p = 0.028). Also, the frequency of the AT<sub>><\/sub><sub>7<\/sub> allele was significantly higher in the patients with IHLH than in the controls (p = 0.007). No significant linkage disequilibrium was found between each polymorphism. With regard to laboratory data, patients homozygous for the <i>CTLA-4<\/i> AT<sub>><\/sub><sub>7<\/sub> allele showed significantly higher serum levels of lactate dehydrogenase and soluble interleukin-2 receptor than patients with the other alleles. <i>Conclusion:<\/i> These results suggest that <i>CTLA-4<\/i> polymorphisms might play a role in the development of IHLH in Japanese children.<\/jats:p>","DOI":"10.1159\/000295572","type":"journal-article","created":{"date-parts":[[2010,3,11]],"date-time":"2010-03-11T09:26:54Z","timestamp":1268299614000},"page":"186-190","source":"Crossref","is-referenced-by-count":1,"title":["Cytotoxic T-Lymphocyte-Associated Antigen 4 Gene Polymorphisms in Japanese Children with Infection-Associated Hemophagocytic Lymphohistiocytosis"],"prefix":"10.1159","volume":"123","author":[{"given":"Megumi","family":"Yoshiyama","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinji","family":"Kounami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiko","family":"Nakayama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takahiro","family":"Okutani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriyuki","family":"Aoyagi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norishige","family":"Yoshikawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2010,3,11]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.blre.2007.05.001"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.3201%2Feid0606.000608"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.cyto.2006.10.010"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0039.2004.00325.x"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.3324%2Fhaematol.11147"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002%2Fart.23734"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038%2Fni0702-611"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1186%2Far1225"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.270.5238.985"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1071"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.84.7.2398"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.ejhg.5201214"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-3083.2008.02144.x"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002%2Fpbc.21039"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1093%2Frheumatology%2F40.6.662"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1086%2F319255"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016%2FS0165-5728%2898%2900119-2"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.gene.6363752"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.gene.6363816"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016%2FS0165-5728%2800%2900191-0"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1002%2Fart.20385"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1016%2FS0925-5710%2897%2900584-7"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1097%2F00043426-199302000-00012"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1158%2F0008-5472.CAN-08-0806"}],"container-title":["Acta Haematologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/295572","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/295572","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T20:14:54Z","timestamp":1745439294000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000295572"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010]]},"references-count":24,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2010,4,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000295572","archive":["Portico"],"relation":{},"ISSN":["0001-5792","1421-9662"],"issn-type":[{"type":"print","value":"0001-5792"},{"type":"electronic","value":"1421-9662"}],"subject":[],"published":{"date-parts":[[2010]]}}}