Part of the book: HLA and Associated Important Diseases
The immune system is responsible for the defense of the organism. It controls what is introduced into it and identifies it as self from non-self. The defensive mechanisms activated by the immune system are directed against pathological microbes and toxic or allergenic proteins, and it must avoid responses that produce excessive damage of self-tissues, inducing tolerance to avoid autoimmunity and other immunopathologies. Regulatory T cells play an essential role in these active processes, using several distinct suppressive mechanisms. The immune dysregulatory diseases result from defects affecting regulatory T cell development and/or function, including the impact of essential genes mutations for T regulatory cell functions and the associated autoimmune syndromes.
Part of the book: Physiology and Pathology of Immunology
Celiac disease, as an autoimmune disorder, is a disease which appears in sensing and immune reaction responses to gluten. It has been confirmed that both genetic and environmental factors are involved. CD is strongly associated with the HLA alleles DQB1*02 (serological DQ2) or DQB1*0302 (serological DQ8). These HLA alleles are necessary but not sufficient for the development of CD and non-HLA risk genes also contribute to disease susceptibility. Several studies have identified linkage or association of CD with the 2q33 locus, a region harboring the candidate genes CD28, CTLA4 and ICOS, important immune checkpoints regulators of T-cell activity. Immune checkpoints are crucial to maintain self-tolerance and protect self-tissue from damage during an ongoing immune response.
Part of the book: Celiac Disease