Autoimmune Diseases and Familial Mediterranean Fever

By Serin Lee ’22
Many of you may have heard of autoimmune diseases. Autoimmune diseases happen when your immune system overreacts and begins to attack your own body. Such instances as this include lupus, rheumatoid arthritis, inflammatory bowel disease, and multiple sclerosis, among others. There is a class of immune diseases known as autoinflammatory diseases, which differs from the typical autoimmune diseases in that they are a malfunction of the innate immune system. For reference, the body’s immune system is divided into the innate and the adaptive immune systems, and the adaptive (a.k.a. acquired) immune system ‘learns’ the pathogens it should attack and produces antibodies for specific targeting. On the other hand, the innate immune system is more primitive and uses white blood cells and inflammation as its weapons.

In autoinflammatory diseases, the innate immune system malfunctions: an example would be a mutation that causes cellular receptors (known as NOD-like receptors or NLRs) to activate frequently. The cell would react by creating an inflammasome to launch an innate immune system response. This leads to the common symptoms of an autoinflammatory disease: joint pain, swelling, rashes, fatigue, and fevers.
 
Because the class has been recently discovered, many families are finding that their once mysterious illnesses were actually autoinflammatory diseases. As a result, doctors too now know where to treat – the innate immune system, and many patients can live symptom-free. Diseases previously labeled ‘autoimmune diseases’ have been placed into the autoinflammatory category, providing more accurate treatment for their patients.
 
The autoinflammatory class was recently placed into the spotlight by the categorization of familial Mediterranean fever. A genetic disease thought to have evolved for protection against the plague, the fever caused periodic bouts of illness with symptoms much like other autoinflammatory diseases. Through decades of study, the mutated gene-one misprint in a gene of 3 billion letters on chromosome 16 – was located and labeled as an autoinflammatory disease. Ultimately, similar studies are now being led on other autoinflammatory diseases, helping millions of people regain their health and finally identify once unknown illnesses.