genetic disease that causes inflammation
They found that a homozygous pair-a double dose of a different variant- from the one detected in the first six patients causes a disease called polyarteritis nodosa (PAN). PAN is a form of vasculitis, an inflammation of medium and small arteries that leads to pain, rashes, numbness, weakness and vital organ damage.
The researchers showed that faulty variants in their patients' DNA that encode the CECR1 gene cause a loss of function of the gene's ability to produce of an enzyme called adenosine deaminase 2 (ADA2). Without it, abnormalities and inflammation in blood vessel walls result.