Can a gene mutation help find new treatments for autoinflammatory diseases?
Autoinflammation is a distinct mechanism of diseases, recognized not only in rare monogenic disorders—disorders that are caused by a single gene mutation—but also in heterogeneous inflammatory conditions (Rose & Mackay). Some examples of autoinflammatory diseases are Familial Mediterranean Fever (FMF), neonatal-onset multisystem inflammatory disease (NOMID), and Muckle-Wells syndrome.
Earlier this year, NIH researchers discovered a new autoinflammatory disease caused by changes in a gene called LYN, which helps regulate immune responses. This disease, called LYN kinase-associated vasculopathy and liver fibrosis (LAVLI), was identified in a patient through genetic testing. They found two more patients with the condition, and all three patients experienced symptoms soon after they were born.
Inflammation occurs in LAVLI when high numbers of neutrophils, a type of white blood cell, harm small blood vessels. In these patients, the immune system activated against liver cells, causing scarring and liver damage. Researchers hope new drugs can target LYN kinase and treat inflammation-related liver problems and non-syndromic small vessel vasculitis.
To learn more about autoinflammatory diseases, check out ARI's blog post on the Global Genes website. To support the Autoimmune Registry, please join our registry or share it with others with autoimmune diseases. Donations are also greatly appreciated!
Rose, N. R., & Mackay, I. R. (2006). The Autoimmune Diseases. Elsevier Inc. https://doi.org/10.1016/B978-0-12-595961-2.X5000-8
