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
• 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/7732706
• 关键词: 9q21; Antibodies; Biochemical; Candidate Disease Gene; Cells; Child; Chromosomes; Chronic; Collaborations; Cytoplasmic Granules; Disease; Family; Future; Gene Mutation; Immune; Immune response; Knowledge; Lymphocyte Function; Lysosomes; Maps; Mediating; Membrane; Molecular; Molecular Target; Mutation; North America; Pathogenesis; Patients; Proteins; Sampling; T-Lymphocyte and Natural Killer Cell; Testing; Virus Diseases; cytotoxic; cytotoxicity; drug development; familial hemophagocytic lymphohistiocytosis; killings; novel

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.

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。