Genomic modulators of the immune response
نویسنده
چکیده
Our understanding of immunity has historically been informed by studying heritable mutations in both the adaptive and innate immune responses, including primary immunodeficiency and autoimmune diseases. Recent advances achieved through the application of genomic and epigenomic approaches are reshaping the study of immune dysfunction and opening up new avenues for therapeutic interventions. Moreover, applying genomic techniques to resolve functionally important genetic variation between individuals is providing new insights into immune function in health. This review describes progress in the study of rare variants and primary immunodeficiency diseases arising from whole-exome sequencing (WES), and discusses the application, success, and challenges of applying genome-wide association studies (GWAS) to disorders of immune function and how they may inform more rational use of therapeutics. In addition, the application of expression quantitative-trait mapping to immune phenotypes, progress in understanding MHC disease associations, and insights into epigenetic mechanisms at the interface of immunity and the environment are reviewed.
منابع مشابه
Regulation of pertussis toxin and lipopolysaccharide levels of Bordetella pertussis 134 in response to modulators
Whooping cough (pertussis) is a highly contagious disease of the human respiratory tract, which is caused by Bordetella pertussis. Reemerge of pertussis in some highly immunized populations and divergency in gene order among several B. pertussis strains promoted this research to study the change of pertussis toxin (PT) and lipopolysacharide levels in response to the different environments. Th...
متن کاملNuclear calcium is required for human T cell activation
Calcium signals in stimulated T cells are generally considered single entities that merely trigger immune responses, whereas costimulatory events specify the type of reaction. Here we show that the "T cell calcium signal" is a composite signal harboring two distinct components that antagonistically control genomic programs underlying the immune response. Using human T cells from healthy individ...
متن کاملRelease of sFasL by Monocytes and Lymphocytes Triggered by Betaglucan and Zymosan
Background: Polysaccharides have long been used as immune-modulators in various pathologic conditions including inflammation and solid malignancies. Objective: To evaluate the effects of Zymosan and Betaglucan on cytotoxic reactions in an effectortarget conjugate system. Methods: Blood was obtained from 20 healthy subjects; purified mononuclear leukocytes (monocytes and lymphocytes) were extrac...
متن کاملThe Impact of Immune Response on HTLV-I in HTLV-I-Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP)
Human T lymphotropic virus type I (HTLV-I) is a retrovirus which is associated with adult T cells leukaemia (ATL) and HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP) in a minority of HTLV-I-infected individuals. It is not clear why a minority of HTLV-I-infected individuals develop HAM/TSP and majority remains lifelong carriers. It seems that the interaction between the v...
متن کاملComparative Genomic Analysis of Buffalo (Bubalus bubalis) NOD1 and NOD2 Receptors and Their Functional Role in In-Vitro Cellular Immune Response
Nucleotide binding and oligomerization domain (NOD)-like receptors (NLRs) are innate immune receptors that recognize bacterial cell wall components and initiate host immune response. Structure and function of NLRs have been well studied in human and mice, but little information exists on genetic composition and role of these receptors in innate immune system of water buffalo--a species known fo...
متن کامل