Autoimmune diseases (AID) refer to destructive conditions involving an aberrant chronic activation of the adaptive immune system, where the immune cells instead of producing antibodies to attack foreign invaders, mistakenly attack the body’s own healthy cells. While autoimmune diseases are heterogeneous according to symptoms, lesion types, and prognosis, and are usually studied in isolation according to groups based on organ system; various autoimmunity diseases share similar immune effector mechanisms. Recent genetic studies suggest that many autoimmune and chronic autoinflammatory conditions share common pathogenic mechanisms, providing a rationale to combine different AID subtypes into a single comprehensive electronic phenotype. An algorithm that defines the spectrum of autoimmune and autoinflammatory conditions based on electornic health records is ideally suited for studies of pleiotropy and shared genetic susceptibility.
The phenotype developed for this study considers a group of autoimmune diseases within a single algorithm and the phenotype is generated by combining a number of knowledge sources. Despite the heterogeneity of the diseases, this phenotype demonstrates that a commonality can be derived from individual diseases and classified under an “umbrella” phenotype.
(July 27, 2017)