van Lith Marcel, van Ham Marieke, Neefjes Jacques
Division of Tumor Biology, The Netherlands Cancer Institute, Plesmanlaan 121, 1066 CX Amsterdam, The Netherlands.
Immunogenetics. 2002 Nov;54(8):591-5. doi: 10.1007/s00251-002-0500-6. Epub 2002 Oct 9.
In B cells, HLA-DO controls HLA-DM-mediated peptide loading on MHC class II molecules. We analyzed whether HLA-DO mutations are associated with autoimmune diseases characterized by an autoantibody component and with a linkage to HLA-DR or HLA-DQ. These diseases include systemic lupus erythematosus, rheumatoid arthritis, celiac disease, and Graves' disease. In addition, several B-cell leukemias were screened for mutations in HLA-DO. A limited number of polymorphisms in DOA and DOB were found, most of which are non-coding changes or result in a conserved amino acid change. A novel non-conserved Arg to Cys mutation in DOA was found in a patient suffering from chronic lymphocytic leukemia. Further analysis did not reveal any effect on the function of HLA-DO. We conclude that HLA-DO variants are not critically involved in the autoimmune diseases and B-cell leukemias studied here.
在B细胞中，HLA-DO控制着HLA-DM介导的MHC II类分子上的肽负载。我们分析了HLA-DO突变是否与以自身抗体成分为特征且与HLA-DR或HLA-DQ连锁的自身免疫性疾病相关。这些疾病包括系统性红斑狼疮、类风湿性关节炎、乳糜泻和格雷夫斯病。此外，对几种B细胞白血病进行了HLA-DO突变筛查。在DOA和DOB中发现了有限数量的多态性，其中大多数是非编码变化或导致保守的氨基酸变化。在一名慢性淋巴细胞白血病患者中发现了DOA中一种新的非保守的精氨酸到半胱氨酸突变。进一步分析未发现对HLA-DO功能有任何影响。我们得出结论，HLA-DO变体在此处研究的自身免疫性疾病和B细胞白血病中并非关键因素。
