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Human leukocyte antigens (HLA) are genes in major histocompatibility complexes (MHC) that help code for proteins that differentiate between self and non-self. They play a significant role in disease and immune defense. They are beneficial to the immune system but can also have detrimental effects. Some of the immune system effects are the interaction with complement, the cytotoxic effect of T cells, and cellular humoral immunity. Additionally, they play a role in autoimmunity and continue to be the target of researchers for their further effects and interactions.[1]
Often, the specific pathophysiology for how HLA antigens are associated with a disease is not well known. However, HLA antigens play a role in autoimmunity. For example, in type I diabetes mellitus, the DR3-DQ2 haplotype is seen at an increased percent compared to the general population. The same haplotype is also associated with juvenile autoimmune thyroiditis. Other haplotypes can be protective for diseases, such as DRB1*14:01, which has protective effects against type I diabetes.[10]