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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

基本信息

批准号：
7964690
负责人：
Helen Su
金额：
$ 33.04万
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
起止时间：
至
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/7964690
关键词：
9p21 Affect Autologous Biopsy Blood Cells Candidate Disease Gene Cells Child Chronic Clinical Cytoplasmic Granules Cytotoxic T-Lymphocytes DNA Decision Making Diagnosis Disease Family Fibroblasts Future Gene Mutation Gene Targeting Genes Hematopoietic stem cells Immune Immune response Immunologic Deficiency Syndromes In Vitro Inherited Knowledge Lymphocyte Lymphocyte Function Lysosomes Maps Membrane Molecular Molecular Target Mutation Parents Pathogenesis Patients Pluripotent Stem Cells Proteins Protocols documentation Research Research Ethics Committees Sampling Skin T-Lymphocyte and Natural Killer Cell Testing Transplant Recipients Transplantation Virus Diseases cytotoxic drug development familial hemophagocytic lymphohistiocytosis healthy volunteer immune function improved killings novel novel therapeutic intervention offspring preclinical study tool

项目摘要

In 2009, we laid the groundwork for our studies, starting with obtaining approval from our institutional review board for a new research protocol that allows us to collect skin biopsies from transplanted FHLH patients. This protocol permits us not only to isolate germline DNA (from other than the transplanted blood cells), but also to establish fibroblast cultures needed for generating inducible pluripotent stem cells (iPS) cells. We have started growing fibroblast cultures from normal healthy volunteers as a prelude to doing the same in our patients. Because our candidate gene studies, focusing on the previously mapped 9p21 locus, have so far been unrevealing in several FHLH patient samples, we are planning a new gene linkage study to confirm and extend this finding. For this study, we have collected approximately half of the DNA samples from the parents and affected offspring of multiplex families that have no known mutations. Our study will be powered to detect two loci.

在2009年，我们为我们的研究奠定了基础，从获得我们的机构审查委员会批准的新研究方案开始，该方案允许我们从移植的FHLH患者中收集皮肤活检。该方案不仅允许我们分离生殖系DNA（来自移植的血细胞以外的细胞），而且还可以建立产生诱导性多能干细胞（iPS）细胞所需的成纤维细胞培养物。我们已经开始从正常的健康志愿者中培养成纤维细胞，作为在我们的患者中做同样事情的前奏。因为我们的候选基因研究，集中在以前绘制的9p21位点，迄今为止还没有揭示在几个FHLH患者样本，我们正在计划一个新的基因连锁研究，以确认和扩展这一发现。在这项研究中，我们从没有已知突变的多重家庭的父母和受影响的后代中收集了大约一半的DNA样本。我们的研究将有能力检测两个基因座。