Two experts discussed ongoing difficulties in diagnosing autoinflammatory disease, & promising new studies that point to possible genetic roots of autoinflammatory disease.
Study Provides Clues to Undefined, Systemic, Autoinflammatory Diseases
A study from October 2019 describes the clinical characteristics of pediatric patients with undefined systemic autoinflammatory diseases. Researchers conducted a genetic analysis and outlined specific variants. They found patients with pericarditis and intellectual impairment may have distinct clinical phenotypes, which may lead to improved diagnostic and treatment options.
Decoding Autoinflammatory Syndromes
Understanding the genetic basis of errors of the immune system may provide new opportunities for therapy