Deficiency of the Interleukin-1-Receptor Antagonist

Please note that the content of this book primarily consists of articles available from Wikipedia or other free sources online.

Deficiency of the interleukin-1-receptor antagonist (DIRA) is a rare, autosomal recessive, genetic autoinflammatory syndrome resulting from mutations in IL1RN, the gene encoding the interleukin 1 receptor antagonist.The mutations result in an abnormal protein that is not secreted, exposing the cells to unopposed interleukin 1 activity.

This results in sterile multifocal osteomyelitis (bone inflammation in multiple places), periostitis (inflammation of the membrane surrounding the bones), and pustulosis (due to skin inflammation) from birth.