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
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8157047
• 关键词: Molecular; familial hemophagocytic lymphohistiocytosis

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.

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新的FHLH遗传连锁研究的患者队列的样本。 由于我们在其中一些患者中发现了STXBP2突变，这些患者被从计划的研究中剔除。 因此，我们正在积累更多的新患者，并已证实他们缺乏已知的突变和候选基因的正常表达。 同时，我们还从皮肤活检中制备了角质形成细胞培养物，以提高从正常健康志愿者和患者中产生诱导多能干细胞的效率。