GENETIC, IMMUNOLOGIC AND MECHANISTIC BASIS OF HUMAN NK CELL DEFICIENCY

人类 NK 细胞缺陷的遗传、免疫学和机制基础

基本信息

项目摘要

NK cell deficiency (NKD) is a subset of primary immunodeficiency diseases/inborn errors of immunity (IEI) in which the NK cell abnormality represents the main clinical immunodeficiency. Patients with abnormal NK cells are susceptible to lethal virus infections and certain cancers, offering us a unique window into how these critical immune cells work. For over 15 years we have cared for and investigated these complex patients, applying genomic techniques to discover causative genes and illuminate NK cell biology. With this application, we aspire to renew our coordinated NKD discovery program, with the ultimate goals of understanding how to care for these patients as well as how to best use NK cells therapeutically. Over the past 5 years of our program, we have defined 2 new genetic causes of NKD and 8 new causes of IEI that affect NK cells. We established and grew an international referral network for NKD patients, honed methods to clinically and immunologically define these rare patients, matured our genomic evaluation/discovery pathways, and optimized patient-focused functional genomics and NK cell biological techniques, all to advance progress in understanding NKD. At present, we have 156 patients enrolled in our NK cell evaluation and research (NEAR) program at Columbia: of these, 70 have undergone exome sequencing (ES) at Baylor College of Medicine, 13 have found genetic solutions for their disease, 11 have a promising gene identified, and 36 remain unsolved. During this renewal period, we will build on our successful momentum, adding new NKD patients to our pipeline, clinically and immunologically defining their disease through the use of databases, advanced biostatistical techniques and research level phenotypic and functional assessments (Aim 1), adding new genomic discovery and analytic techniques like whole genome sequencing and RNA sequencing to bring clarity to the patients whose NKD genes remain “unsolved” (Aim 2), and applying cutting-edge functional genomics and NK cell biological techniques to demonstrate the impact and relevance of the gene mutations we discover (Aim 3). We capitalize on strong, long-standing collaborations both within and beyond the field of Immunodeficiency in order to best define how the gene mutations we identify impact how NK cells function in human health. In so doing, we aim to not only better diagnose and care for these complex patients, but to better understand how NK cells protect humans from viruses and cancer.
NK细胞缺乏症(NKD)是原发性免疫缺陷疾病/先天性免疫缺陷(IEI)的一个子集

项目成果

期刊论文数量(28)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function
  • DOI:
    10.1084/jem.20190147
  • 发表时间:
    2019-12-01
  • 期刊:
  • 影响因子:
    15.3
  • 作者:
    Lam, Michael T.;Coppola, Simona;Tartaglia, Marco
  • 通讯作者:
    Tartaglia, Marco
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Jordan Scott Orange其他文献

Jordan Scott Orange的其他文献

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{{ truncateString('Jordan Scott Orange', 18)}}的其他基金

GENETIC, IMMUNOLOGIC AND MECHANISTIC BASIS OF HUMAN NK CELL DEFICIENCY
人类 NK 细胞缺陷的遗传、免疫学和机制基础
  • 批准号:
    10363767
  • 财政年份:
    2016
  • 资助金额:
    $ 76.95万
  • 项目类别:
GENETIC, IMMUNOLOGIC AND MECHANISTIC BASIS OF HUMAN NK CELL DEFICIENCY
人类 NK 细胞缺陷的遗传、免疫学和机制基础
  • 批准号:
    10490860
  • 财政年份:
    2016
  • 资助金额:
    $ 76.95万
  • 项目类别:
GENETIC, IMMUNOLOGIC AND MECHANISTIC BASIS OF HUMAN NK CELL DEFICIENCY
人类 NK 细胞缺陷的遗传、免疫学和机制基础
  • 批准号:
    9205454
  • 财政年份:
    2016
  • 资助金额:
    $ 76.95万
  • 项目类别:
GENETIC, IMMUNOLOGIC AND MECHANISTIC BASIS OF HUMAN NK CELL DEFICIENCY
人类 NK 细胞缺陷的遗传、免疫学和机制基础
  • 批准号:
    9003675
  • 财政年份:
    2016
  • 资助金额:
    $ 76.95万
  • 项目类别:
Directing Function at the Natural Killer Cell Secretory Immunological Synapse
自然杀伤细胞分泌免疫突触的指导功能
  • 批准号:
    8308767
  • 财政年份:
    2011
  • 资助金额:
    $ 76.95万
  • 项目类别:
Directing Function at the Natural Killer Cell Secretory Immunological Synapse
自然杀伤细胞分泌免疫突触的指导功能
  • 批准号:
    7875101
  • 财政年份:
    2009
  • 资助金额:
    $ 76.95万
  • 项目类别:
The mechanism of NK cell defects in human NEMO deficiency
人类NEMO缺陷导致NK细胞缺陷的机制
  • 批准号:
    7629124
  • 财政年份:
    2008
  • 资助金额:
    $ 76.95万
  • 项目类别:
The mechanism of NK cell defects in human NEMO deficiency
人类NEMO缺陷导致NK细胞缺陷的机制
  • 批准号:
    7530223
  • 财政年份:
    2008
  • 资助金额:
    $ 76.95万
  • 项目类别:
Directing Function at the Natural Killer Cell Secretory Immunological Synapse
自然杀伤细胞分泌免疫突触的指导功能
  • 批准号:
    7650556
  • 财政年份:
    2008
  • 资助金额:
    $ 76.95万
  • 项目类别:
Directing Function at the Natural Killer Cell Secretory Immunological Synapse
自然杀伤细胞分泌免疫突触的指导功能
  • 批准号:
    8448575
  • 财政年份:
    2007
  • 资助金额:
    $ 76.95万
  • 项目类别:

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