|
|||||
|
|
KIR genes and HLA class I ligands in Gaucher disease |
|
| Authors: | Filippo Vairo Pâmela Portela Patrícia H Salim Mariana Jobim Cristina Netto Alicia Dorneles Suzana Mittlestadt Luiz Fernando Jobim Ida Vanessa D Schwartz |
| Institution: | 1. Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil;2. Post Graduation Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Brazil;3. Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Brazil;4. Immunology Service, Hospital de Clínicas de Porto Alegre, Brazil;5. BRAIN Experimental Research Group Laboratory, Hospital de Clínicas de Porto Alegre, Brazil;6. Genetics Department, Universidade Federal do Rio Grande do Sul, Brazil |
| Abstract: | Gaucher disease (GD) is caused by reduced activity of the lysosomal enzyme glucocerebrosidase, which leads to a buildup of glucocerebroside within the cells and chronic stimulation of the immune system. GD is associated with clinical variability even in the same family, which suggests the influence of modifier genes. Natural killer (NK) cells play an important role in the immune response, and their number is decreased in GD. Killer-cell immunoglobulin-like receptors (KIR) regulate the activity of NK cells through an interaction with specific human leukocyte antigen (HLA) class I molecules on target cells. |
| Keywords: | ERT enzyme replacement therapy GCs Gaucher cells GD Gaucher disease HLA human leukocyte antigen KIR killer-cell immunoglobulin-like receptors MGUS monoclonal gammopathy of undetermined significance MM multiple myeloma NK natural killer REDOME National Bone Marrow Donors Registry SSI severity score index SSP sequence-specific primers |
| 本文献已被 ScienceDirect 等数据库收录！ | |