{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T02:48:52Z","timestamp":1790045332951,"version":"4.0.1"},"reference-count":20,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2011,2,4]],"date-time":"2011-02-04T00:00:00Z","timestamp":1296777600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2011,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Chediak Higashi syndrome (CHS) is an autosomal\u2010recessive disorder characterized by oculocutaneous albinism, recurrent infections and a progressive primary neurological disease. Here, we describe two siblings with CHS due to a novel homozygous R1836X mutation in the <jats:italic>LYST<\/jats:italic> gene associated with loss of NK cell degranulation and cytotoxicity. While one sibling was born with fair skin and hair and died of hemophagocytic lymphohistiocytosis (HLH) at 5 months of age, the other sibling had dark black hair and skin and developed HLH at the age of 4 years. Pediatr Blood Cancer 2011;56:1136\u20131139. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/pbc.22878","type":"journal-article","created":{"date-parts":[[2011,2,5]],"date-time":"2011-02-05T08:54:36Z","timestamp":1296896076000},"page":"1136-1139","source":"Crossref","is-referenced-by-count":29,"title":["A novel single point mutation of the <i>LYST<\/i> gene in two siblings with different phenotypic features of Chediak Higashi syndrome"],"prefix":"10.1002","volume":"56","author":[{"given":"Zuhre","family":"Kaya","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Ehl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meryem","family":"Albayrak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Maul\u2010Pavicic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus","family":"Schwarz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulker","family":"Kocak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet Ali","family":"Ergun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Turkiz","family":"Gursel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,2,4]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.7.1091"},{"key":"e_1_2_6_3_2","first-page":"620","article-title":"Homozygosity mapping of the gene for Chediak Higashi 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_6_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-307"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.47.29790"},{"key":"e_1_2_6_6_2","first-page":"625","article-title":"Genetic and physical mapping of the Chediak Higashi syndrome on chromosome 1q 42\u201343","volume":"59","author":"Barrat FJ","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_7_2","first-page":"983","article-title":"Protein truncation test of LYST reveals heterogeneous mutations in patients with Chediak Higashi syndrome","volume":"85","author":"Certain S","year":"2000","journal-title":"Blood"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10184"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-02-074468"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20405"},{"key":"e_1_2_6_11_2","first-page":"409","article-title":"Oculocutaneous albinism","volume":"39","author":"Lacour JP","year":"1992","journal-title":"Ann Pediatr"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C"},{"key":"e_1_2_6_13_2","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/jid.1967.183","article-title":"The Chediak Higashi syndrome; formation of giant melanosomes and the basis of hypopigmentation","volume":"49","author":"Zeleckson AS","year":"1967","journal-title":"J Invest Dermatol"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2007.00371.x"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(03)00123-3"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.1993.tb03867.x"},{"key":"e_1_2_6_17_2","doi-asserted-by":"crossref","first-page":"321","DOI":"10.5144\/0256-4947.1993.321","article-title":"Chediak Higashi syndrome: Report on five Saudi Arab children and review of the literature","volume":"13","author":"Al Nasser AA","year":"1993","journal-title":"Ann Saudi Med"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-3038.2002.01052.x"},{"key":"e_1_2_6_19_2","first-page":"359","article-title":"The Chediak Higashi gene in humans. III. Studies on the mechanism of NK impairment","volume":"51","author":"Roder JC","year":"1983","journal-title":"Clin Exp Immunol"},{"key":"e_1_2_6_20_2","doi-asserted-by":"crossref","first-page":"6122","DOI":"10.4049\/jimmunol.154.11.6122","article-title":"Loss of cytotoxic T lymphocyte function in Chediak Higashi syndrome arises from a secretory defect that prevents lytic granule exocytosis","volume":"154","author":"Baetz K","year":"1995","journal-title":"J Immunol"},{"key":"e_1_2_6_21_2","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1182\/blood.V65.4.837.837","article-title":"Expression of the Chediak Higashi lysosomal abnormality in human peripheral blood lymphocyte subpopulations","volume":"65","author":"Grossi CE","year":"1985","journal-title":"Blood"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.22878","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.22878","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.22878","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T03:53:42Z","timestamp":1697601222000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.22878"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,2,4]]},"references-count":20,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2011,7]]}},"alternative-id":["10.1002\/pbc.22878"],"URL":"https:\/\/doi.org\/10.1002\/pbc.22878","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,2,4]]}}}