Heritable and Polygenic Inflammatory Disorders

Emery and Rimoin' s Principles and Practice of Medical Genetics and Genomics(2023)

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摘要
Autoimmunity is a breakdown of the normal mechanisms that maintain immunologic homeostasis in the immune system response to specific antigens. The pathogenesis of autoimmune disease is multifactorial, including both genetic and environmental factors affecting the onset, maintenance, and progression of diseases. Autoimmune disorders result from the recognition of self-antigen(s) and the subsequent attack on self-tissues, usually by the adaptive immune response. Autoimmune pathology can be caused by T lymphocytes, natural killer cell, and/or antibodies and can be modulated by hormonal effects. One of the unifying themes of many autoimmune disorders is that they are associated with specific alleles and genotypes of the highly polymorphic major histocompatibility complex where, in humans, the human leukocyte antigen loci reside. In addition, a host of other genes can contribute to the onset, course, management, and response to therapy of specific diseases.
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polygenic inflammatory disorders
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