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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：
8555971
负责人：
Helen Su
金额：
$10.41万
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/8555971
关键词：
AutologousBiopsyCandidate Disease GeneCellsChildChronicCytoplasmic GranulesCytotoxic T-LymphocytesDiagnosisDiseaseEvaluationFutureGene MutationGene TargetingGenesGoalsHematopoietic stem cellsHemophagocytic LymphohistiocytosesImmuneImmune responseImmunologic Deficiency SyndromesIn VitroInheritedKnowledgeLymphocyteLymphocyte FunctionLysosomesMacrophage ActivationMembraneMolecularMolecular TargetMutationPathogenesisPatientsPluripotent Stem CellsProteinsResearchSamplingSkinSyndromeT-Lymphocyte and Natural Killer CellTestingTransplant RecipientsVirus Diseasesclinical decision-makingcongenital immunodeficiencycytotoxicdrug developmentexomefamilial hemophagocytic lymphohistiocytosishealthy volunteerimmune functionimprovedinduced pluripotent stem cellkeratinocytekillingsnovelnovel therapeutic interventionpreclinical studytool

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中文摘要
翻译
在2012年，我们继续增加了几个新的FHLH和MAS患者到我们的研究中，在验证他们缺乏已知的突变和各种候选基因的正常表达后。在继续积累更多患者的同时，我们已经开始对这些样本进行外显子组测序，目的是确定导致疾病的新突变。 我们已经获得了候选基因的部分列表，我们已经开始通过体外功能评估筛选这些基因。 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。
英文摘要
In 2012, we continued to accrue several new FHLH and MAS patients to our study, after validating their lack of known mutations and the normal expression of various candidate genes. While continuing to accrue additional patients, we have initiated exome sequencing on these samples, with the goal of identifying new mutations responsible for disease. We have obtained a partial list of candidate genes, which we are have begun to winnow down by functional evaluations in vitro. 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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