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Human Leukocyte Antigens (HLAs) are proteins that play a crucial role in immune response regulation. The HLA-B5701 allele encodes a specific form of the HLA-B protein, which has been shown to be highly relevant in the metabolism and response to certain medications. The primary drug implicated is abacavir, a nucleoside reverse transcriptase inhibitor used in the treatment of HIV/AIDS.

Individuals with the HLA-B5701 allele have an elevated risk of developing hypersensitivity reactions to abacavir. These reactions can range from mild symptoms like rash and fever to more severe manifestations such as respiratory distress and systemic organ failure. The precise mechanism remains a subject of research but is thought to involve the activation of immune cells by drug-HLA complexes.

Advancements in pharmacogenetics offer the promise of more individualized and safer treatment regimens. HLA-B5701 serves as a model for the integration of genetic screening into clinical practice, exemplifying the potential benefits and challenges inherent to personalized medicine. Ongoing research aims to identify additional HLA alleles that might serve as pharmacogenetic markers for other drugs, thereby broadening the scope and impact of this burgeoning field.