{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:28:01Z","timestamp":1791098881704,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2013,6,27]],"date-time":"2013-06-27T00:00:00Z","timestamp":1372291200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Grant-in-Aid for Scientific Research from the Ministry of Health and Labor"},{"name":"Grant-in-Aid for Cancer Research from the Ministry of Health and Labor"},{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology, Japan","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2013,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Ch\u00e9diak\u2013Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by immunodeficiency, neurological dysfunction, and oculocutaneous albinism. Recently, several clinical CHS phenotypes have been reported. Here, we report results of a nationwide survey performed to clarify clinical characteristics and outcomes of CHS patients in Japan.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Questionnaires were sent to 287 institutions to collect data regarding CHS patients diagnosed between 2000 and 2010, including results of lysosomal trafficking regulator (<jats:italic>LYST<\/jats:italic>) gene analysis. Cytotoxicity and degranulation activity of cytotoxic T lymphocytes were analyzed in available patient samples.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 15 patients diagnosed with CHS were eligible for enrollment in this study. Of these, 10 (67%) had recurrent bacterial infections, five (33%) developed life\u2010threatening hemophagocytic lymphohistiocytosis (HLH), and one patient had complicated malignant lymphoma. Hematopoietic stem cell transplantation (HSCT) was performed for six patients including three with HLH, and 10 of the enrolled patients have survived at the time of this writing. <jats:italic>LYST<\/jats:italic> analysis was performed for 10 patients; seven different mutations were detected in seven patients, whereas no mutation was identified in three patients. Cytotoxicity and degranulation activity were impaired in patients with and without <jats:italic>LYST<\/jats:italic> mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>Results of this survey indicate that one or two patients with CHS were newly diagnosed each year in Japan. The incidence of HLH was not as high as expected. Mutations of genes other than <jats:italic>LYST<\/jats:italic> were suspected in some cases. We conclude that determining indication for HSCT for CHS patients should be based on genetic and cytotoxic analysis. Pediatr Blood Cancer 2013;60:1582\u20131586. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.24637","type":"journal-article","created":{"date-parts":[[2013,6,27]],"date-time":"2013-06-27T06:51:04Z","timestamp":1372315864000},"page":"1582-1586","source":"Crossref","is-referenced-by-count":57,"title":["Clinical characteristics and outcomes of ch\u00e9diak\u2013Higashi syndrome: A nationwide survey of Japan"],"prefix":"10.1002","volume":"60","author":[{"given":"Kozo","family":"Nagai","sequence":"first","affiliation":[{"name":"Department of Pediatrics Ehime University Graduate School of Medicine Toon Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumihiro","family":"Ochi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ehime University Graduate School of Medicine Toon Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiminori","family":"Terui","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hirosaki University Hirosaki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miho","family":"Maeda","sequence":"additional","affiliation":[{"name":"Histiocytosis Committee of the Japanese Society of Pediatric Hematology and Oncology Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shouichi","family":"Ohga","sequence":"additional","affiliation":[{"name":"Histiocytosis Committee of the Japanese Society of Pediatric Hematology and Oncology Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirokazu","family":"Kanegane","sequence":"additional","affiliation":[{"name":"Histiocytosis Committee of the Japanese Society of Pediatric Hematology and Oncology Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiyuki","family":"Kitoh","sequence":"additional","affiliation":[{"name":"Histiocytosis Committee of the Japanese Society of Pediatric Hematology and Oncology Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuhiro","family":"Kogawa","sequence":"additional","affiliation":[{"name":"Histiocytosis Committee of the Japanese Society of Pediatric Hematology and Oncology Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuhiro","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Histiocytosis Committee of the Japanese Society of Pediatric Hematology and Oncology Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shigeru","family":"Ohta","sequence":"additional","affiliation":[{"name":"Histiocytosis Committee of the Japanese Society of Pediatric Hematology and Oncology Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasushi","family":"Ishida","sequence":"additional","affiliation":[{"name":"Histiocytosis Committee of the Japanese Society of Pediatric Hematology and Oncology Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takayuki","family":"Okamura","sequence":"additional","affiliation":[{"name":"Histiocytosis Committee of the Japanese Society of Pediatric Hematology and Oncology Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Wakiguchi","sequence":"additional","affiliation":[{"name":"Histiocytosis Committee of the Japanese Society of Pediatric Hematology and Oncology Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaki","family":"Yasukawa","sequence":"additional","affiliation":[{"name":"Bioregulatory Medicine Ehime University Graduate School of Medicine Toon Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eiichi","family":"Ishii","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ehime University Graduate School of Medicine Toon Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,6,27]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-307"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/382262a0"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12312291"},{"key":"e_1_2_5_5_1","first-page":"620","article-title":"Homozygosity mapping of the gene for Chediak\u2013Higashi syndrome to chromosome 1q42\u2013q44 in a segment of conserved synteny that includes the mouse beige locus (bg)","volume":"59","author":"Fukai K","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03402003"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/385826a0"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/25069"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.34.20227"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2001.02936.x"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-05-356113"},{"key":"e_1_2_5_12_1","doi-asserted-by":"crossref","first-page":"2352","DOI":"10.1182\/blood.V95.7.2352","article-title":"Granule exocytosis, and not the fas\/fas ligand system, is the main pathway of cytotoxicity mediated by alloantigen\u2010specific CD4(+) as well as CD8(+) cytotoxic T lymphocytes in humans","volume":"95","author":"Yasukawa M","year":"2000","journal-title":"Blood"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-08-3296"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.09.005"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1155\/2010\/464671"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-197207000-00001"},{"key":"e_1_2_5_17_1","doi-asserted-by":"crossref","first-page":"3328","DOI":"10.1182\/blood.V85.11.3328.bloodjournal85113328","article-title":"Treatment of Chediak\u2013Higashi syndrome by allogenic bone marrow transplantation: Report of 10 cases","volume":"85","author":"Haddad E","year":"1995","journal-title":"Blood"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10184"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-01-0319"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.00186"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.24637","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.24637","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.24637","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T17:12:14Z","timestamp":1696525934000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.24637"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6,27]]},"references-count":19,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2013,10]]}},"alternative-id":["10.1002\/pbc.24637"],"URL":"https:\/\/doi.org\/10.1002\/pbc.24637","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,6,27]]}}}