Titlebook: Genetics of Rare Autoimmune Diseases; Javier Martín,Francisco David Carmona Book 2019 Springer Nature Switzerland AG 2019 Genomics.Autoimm

Foreknowledge

Autoimmune Myasthenia Gravis,relatively well understood pathogenesis, the disease is heterogeneous. Disease subgroups are being diversified with respect to age at disease onset, clinical presentation, sex distribution, autoantigens, as well as associated thymic pathologies. Genetic susceptibility to MG was implicated by family

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Common Genetic Component in Autoimmunity,ders and their etiology has not been fully elucidated yet, a number of these conditions share some common characteristics such as inflammation and the presence of autoantibodies and self-reactive T cells..Ten years ago, a better understanding of human genetic variation and advances in high-throughpu

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缝纫

Systemic Lupus Erythematosus,rgeting. Both common and rare variants cannot, however, be viewed entirely independently, as modified penetrance of protein-coding variants through regulatory haplotypes, as well as common variant haplotypes, has been observed in SLE.

dowagers-hump

,Sjögren’s Syndrome,munity. Most of the genes associated with susceptibility to pSS have been identified because the proteins involved have been previously associated with the pathogenesis of pSS or because the genes had already been associated with another autoimmune disease such as SLE or RA. Consequently, in this ch

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Polymyositis/Dermatomyositis,unidentified, and, therefore, future efforts will be necessary to gain insight into this missing heritability, as well as on the functional consequences of associated variants. In addition, the role of epigenetic modifications in the IIM pathogenesis is being currently explored. Integrating genetics

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Common Genetic Component in Autoimmunity, more robustly validated shared autoimmunity risk loci found in recent GWAS. More specifically, we discuss the involvement of the HLA and other shared risk loci such as the tumor necrosis factor cytokine and receptor superfamilies, IL23R and IL2RA, and genes involved in the interferon signature and

Onerous

碳水化合物

Fruchtsäfte, Limonaden, Brauselimonadenrgeting. Both common and rare variants cannot, however, be viewed entirely independently, as modified penetrance of protein-coding variants through regulatory haplotypes, as well as common variant haplotypes, has been observed in SLE.