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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：
7732706
负责人：
Helen Su
金额：
$28.18万
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/7732706
关键词：
9q21AntibodiesBiochemicalCandidate Disease GeneCellsChildChromosomesChronicCollaborationsCytoplasmic GranulesDiseaseFamilyFutureGene MutationImmuneImmune responseKnowledgeLymphocyte FunctionLysosomesMapsMediatingMembraneMolecularMolecular TargetMutationNorth AmericaPathogenesisPatientsProteinsSamplingT-Lymphocyte and Natural Killer CellTestingVirus Diseasescytotoxiccytotoxicitydrug developmentfamilial hemophagocytic lymphohistiocytosiskillingsnovel

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中文摘要
翻译
我们已经建立了合作关系，以检测来自北美没有已知突变的多重家族的家族性噬血细胞性淋巴组织细胞病（FHLH）患者样本，以及以前将疾病定位于染色体9q21的巴基斯坦近亲家族的患者样本。在所有样本中，一个新的候选基因的测序正在进行中。已经产生了针对这种蛋白质的抗体，以帮助其生化表征。功能性研究已经开始，以确定该蛋白如何参与颗粒介导的细胞毒性。
英文摘要
We have set up collaborations to test familial hemophagocytic lymphohistiocytosis (FHLH) patient samples from multiplex families in North America without known mutations, as well as inbred Pakistani families in which disease was previously mapped to chromosome 9q21. Sequencing of a novel candidate gene within the mapped locus is in progress for all samples. Antibodies have been generated against this protein to aid in its biochemical characterization. Functional studies have been initiated to ascertain how this protein may participate in granule-mediated cytotoxicity.
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Host factors contributing to susceptibility to COVID-19 disease
Molecular Mechanisms of Familial Hemophagocytic Lymphohistiocytosis
Defining New Human Immunodeficiency and Immunodysregulation Disorders
Defining New Human Immunodeficiency and Immunodysregulation Disorders
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