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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：
8336271
负责人：
Helen Su
金额：
$20.23万
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/8336271
关键词：
AutologousBiopsyCandidate Disease GeneCellsChildChronicCytoplasmic GranulesCytotoxic T-LymphocytesDiagnosisDiseaseEvaluationFutureGene MutationGene TargetingGenesGoalsHematopoietic stem cellsImmuneImmune responseImmunologic Deficiency SyndromesIn VitroInheritedKnowledgeLymphocyteLymphocyte FunctionLysosomesMembraneMolecularMolecular TargetMutationPathogenesisPatientsPluripotent Stem CellsProteinsResearchSamplingSkinT-Lymphocyte and Natural Killer CellTestingTransplant RecipientsVirus Diseasesclinical decision-makingcytotoxicdrug developmentexomefamilial hemophagocytic lymphohistiocytosishealthy volunteerimmune functionimprovedinduced pluripotent stem cellkeratinocytekillingsnovelnovel therapeutic interventionpreclinical studytool

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In 2011, we accrued several new FHLH 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 now attempting 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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