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Major Histocompatibility Complex and Autoimmune Disease
Published in Richard K. Burt, Alberto M. Marmont, Stem Cell Therapy for Autoimmune Disease, 2019
Ursula Holzer, Gerald T. Nepom
The seronegative spondyloarthropathies are a cluster of inflammatory arthritides encompassing ankylosing spondylitis, psoriatic arthritis, Reiter’s syndrome/reactive arthritis and the arthritis associated with inflammatory bowel disease. These disorders share similar clinical and immunogenetic features including axial arthritis and enthesopathy, a general predilection for males, the absence of rheumatoid factor and association with infections of the intestinal and genitourinary tracts. These diseases frequently show familial aggregation and are all strongly associated with HLA-B*27.82 The strength of this assocation, however, varies not only among different ethnic groups but as well between the various diseases.83 About 80-95% of the patients of white western European descent with ankylosing spondylitis and about 60-80% of the patients with reactive arthritis carry the MHC class I allele HLA-B*27 compared to 8% in the general population.82
Genetic variants affecting chemical mediated skin immunotoxicity
Published in Journal of Toxicology and Environmental Health, Part B, 2022
Isisdoris Rodrigues de Souza, Patrícia Savio de Araujo-Souza, Daniela Morais Leme
The MHC molecules are cell surface glycoproteins whose function is to present peptide antigens to T cells. T cell activation may elicit different types of immune reactions, playing an essential role in pathogenesis of infectious and allergic diseases (Orentas et al. 1990; Posadas and Pichler 2007). The human genes encoding MHC molecules such as human leukocyte antigen and HLA are located in a region that spans approximately 3.6 Mb on 6p21.3, and includes not only classical HLA class I (HLA-A, HLA-B and HLA-C) and II genes (HLA-DRA1, HLA-DRB1, HLA-DPA1, HLA-DPB1, HLA-DQA1 and HLA-DQB1) but also a large number of highly polymorphic genes, encoding proteins with immune-related functions, such as TNF (Alfirevic and Pirmohamed 2011).