[A case report of childhood primary hemophagocytic syndrome].
作者信息
Wang Ying-Chao, Zhu Gui-Ying, Yin Chu-Yun, Jiang Lan-Jun, Zhao Xiao-Ming, Sheng Guang-Yao
机构信息
Department of Pediatrics, First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
出版信息
Zhongguo Dang Dai Er Ke Za Zhi. 2017 Jan;19(1):117-120. doi: 10.7499/j.issn.1008-8830.2017.01.019.
Abstract
摘要
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本文引用的文献
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Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry.噬血细胞性淋巴组织细胞增生症的遗传易感性：来自意大利登记处的500例患者报告。
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Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion.由抑制SNARE介导的膜融合的STXBP2显性负性突变引起的噬血细胞性淋巴组织细胞增生症。
Blood. 2015 Mar 5;125(10):1566-77. doi: 10.1182/blood-2014-11-610816. Epub 2015 Jan 6.
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Infantile hemophagocytic lymphohistiocytosis in a case of chediak-higashi syndrome caused by a mutation in the LYST/CHS1 gene presenting with delayed umbilical cord detachment and diarrhea.1例由LYST/CHS1基因突变引起的Chediak-Higashi综合征患儿发生噬血细胞性淋巴组织细胞增生症，表现为脐带延迟脱落和腹泻。
J Pediatr Hematol Oncol. 2015 Mar;37(2):e73-9. doi: 10.1097/MPH.0000000000000300.
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LYST controls the biogenesis of the endosomal compartment required for secretory lysosome function.LYST控制分泌性溶酶体功能所需的内体区室的生物发生。
Traffic. 2015 Feb;16(2):191-203. doi: 10.1111/tra.12244. Epub 2015 Jan 6.
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Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype.希德克-希加希综合征：两种新型纯合错义突变导致不同临床表现的描述。
Eur J Haematol. 2014 Jan;92(1):49-58. doi: 10.1111/ejh.12203. Epub 2013 Oct 24.
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J Pediatr Hematol Oncol. 2014 May;36(4):e248-50. doi: 10.1097/MPH.0000000000000025.
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Yonsei Med J. 2013 Jul;54(4):1053-7. doi: 10.3349/ymj.2013.54.4.1053.
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