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Remission and Relapse of Hemophagocytic Lymphohistiocytosis in a Patient Harboring a PRF1 Homozygous Mutation: A Case Report

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收录情况： ◇ SCIE

作者：

机构： [1]Capital Med Univ, Beijing Childrens Hosp, Dept Virol Lab, Beijing 10045, Peoples R China; [2]Capital Med Univ, Beijing Childrens Hosp, Dept Infect, Beijing 10045, Peoples R China

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关键词： familial hemophagocytic lymphohistiocytosis PRF1 mutation remission relapse

摘要：

The aim of this paper was to describe a case of familial hemophagocytic lymphohistiocytosis (HLH) in a pediatric patient with a PRF1 homozygous mutation. An 8-year-old boy diagnosed with HLH was in remission after undergoing nonspecific treatment; however, merely 2 months later, he was presented at our hospital with a relapse of HLH. His genetic analysis showed that he had a homozygous mutation c.1066C > T in the PRF1 gene. Timely distinction of primary HLH from secondary HLH is critical.

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出版当年[2013]版：

大类 | 4 区医学

小类 | 4 区血液学 4 区肿瘤学 4 区儿科

最新[2023]版：

大类 | 4 区医学

小类 | 4 区血液学 4 区肿瘤学 4 区儿科

JCR分区：

出版当年[2012]版：

Q3 PEDIATRICS Q4 HEMATOLOGY Q4 ONCOLOGY

最新[2023]版：

Q3 PEDIATRICS Q4 HEMATOLOGY Q4 ONCOLOGY

影响因子： 0.9 最新[2023版] 1 最新五年平均 0.973 出版当年[2012版] 1.162 出版当年五年平均 1.159 出版前一年[2011版] 0.956 出版后一年[2013版]

第一作者：

第一作者机构： [1]Capital Med Univ, Beijing Childrens Hosp, Dept Virol Lab, Beijing 10045, Peoples R China;

通讯作者：

通讯机构： [2]Capital Med Univ, Beijing Childrens Hosp, Dept Infect, Beijing 10045, Peoples R China

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