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Molecular Mechanisms of Familial Hemophagocytic Lymphohistiocytosis

Molecular Mechanisms of Familial Hemophagocytic Lymphohistiocytosis
家族性噬血细胞性淋巴组织细胞增多症的分子机制
批准号：
8157047
负责人：
Helen Su
金额：
$4.89万
依托单位：
NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES
依托单位国家：
美国
项目类别：
财政年份：
--
资助国家：
美国
项目状态：
未结题
起止时间：
至
来源：
https://reporter.nih.gov/project-details/8157047
关键词：
Molecularfamilial hemophagocytic lymphohistiocytosis

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中文摘要
翻译
2010年，鉴于最近发现STXBP2突变与一定比例的FHLH病例有关，我们重新检查了我们计划纳入FHLH新遗传连锁研究的患者队列样本。当我们在其中一些患者中发现STXBP2突变时，这些患者被从计划的研究中删除。因此，我们正在积累更多的新患者，并证实他们缺乏已知的突变和候选基因的正常表达。同时，我们也从皮肤活检组织中制备了角质细胞培养物，以提高从正常健康志愿者和患者身上产生诱导多能干细胞的效率。
英文摘要
In 2010, in light of the recent discovery that STXBP2 mutations are responsible for a proportion of FHLH cases, we re-examined samples from the cohort of patients we had planned to include in our new genetic linkage study of FHLH. As we found STXBP2 mutations in some of these patients, those patients were dropped from the planned study. Therefore, we are accruing additional new patients and have validated their lack of known mutations and normal expression of candidate genes. In parallel, we have also prepared keratinocyte cultures from skin biopsies to improve the efficiency of generating induced pluripotent stem cells from normal healthy volunteers and patients.
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Molecular Mechanisms of Familial Hemophagocytic Lymphohistiocytosis
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