基因免疫学顾问的基因免疫学顾问数据库,用于免疫的先天性错误
Andrés Caballero-Oteyza1, Laura Crisponi2, Xiao P Peng3
1Clinic for Immunology and Rheumatology, Hanover Medical School, Hanover, Germany; RESiST-Cluster of Excellence 2155, Hanover Medical School, Hanover, Germany; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, University Hospital Freiburg, Freiburg, Germany.
The Journal of allergy and clinical immunology
|December 1, 2023
概括
一个新的平台,遗传免疫学顾问 (GenIA),合成基因型,表型和机制数据,用于免疫的先天性错误 (IEI). 通过提供全面,精心策划的IEI知识,GenIA旨在提高罕见遗传免疫疾病的诊断率.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 是一个遗传学.
- 生物信息学是一种生物信息学.
背景情况:
- 免疫的先天性错误 (IEI) 呈现出一个复杂的基因型,表型和机理信息的景观.
- 目前,没有一个单一的公开可访问的平台能够有效地综合这些多方面的IEI数据.
- 疑似IEI病例的诊断率较低,凸显了改善数据可访问性和整合性的需要.
研究的目的:
- 开发一个专业策划的,以患者为中心的,IEI的多维数据库.
- 为了实现复杂的数据查询和IEI信息的聚合.
- 促进社区参与,提高IEI资源的实用性.
主要方法:
- 数据库结构设计使用以主题为中心的模型和SQL.
- 使用PHP,HTML,CSS和JavaScript开发的网络应用程序.
- 通过手动审查已发表的研究文章进行数据提取.
主要成果:
- 已完成24个试点基因的数据收集和策划.
- 证明了GenIA提供快速访问结构化,纵向IEI知识的能力.
- 与ClinGen,HPO,ClinVar和OMIM等现有数据库相比,GenIA提供了更全面和最新的信息.
结论:
- GenIA准确地捕捉到IEI的遗传,机理和表型异质性.
- 该平台解决了IEI中的遗传范式和诊断挑战.
- 社区的参与将使GenIA成为知识共享,研究,诊断和遗传免疫疾病患者护理的重要资源.
相关概念视频
Inborn Errors of Metabolism
165
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
165
Immunodeficiency Diseases
947
Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency...
There are three main causes of immunodeficiency...
947
Genomic Imprinting and Inheritance
34.6K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
34.6K
Development of Immunocompetence
315
The initiation of cell-mediated immunity can be observed as early as the third month of fetal growth, with active antibody-mediated immunity following approximately one month later.
The initial cells that migrate from the fetal thymus settle within the skin and epithelial tissues lining the mouth, digestive tract, and in females, the uterus and vagina. These cells, including skin-based dendritic cells, serve as antigen-presenting cells, playing a key role in T cell activation.
Subsequent T...
The initial cells that migrate from the fetal thymus settle within the skin and epithelial tissues lining the mouth, digestive tract, and in females, the uterus and vagina. These cells, including skin-based dendritic cells, serve as antigen-presenting cells, playing a key role in T cell activation.
Subsequent T...
315
Introduction to Innate and Adaptive Immunity
4.1K
The human immune system is a complex defense mechanism that protects the body from harmful pathogens and foreign substances. It comprises two crucial components: innate and adaptive immunity.
Innate immunity is the body's natural, nonspecific defense system that acts quickly to protect against pathogens. It incorporates physical barriers like skin and mucous membranes and cellular elements such as phagocytes and natural killer cells. This part of our immune system provides an immediate,...
Innate immunity is the body's natural, nonspecific defense system that acts quickly to protect against pathogens. It incorporates physical barriers like skin and mucous membranes and cellular elements such as phagocytes and natural killer cells. This part of our immune system provides an immediate,...
4.1K
Genetic Screens
5.0K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.0K


