sterile multifocal osteomyelitis with periostitis and pustulosis

Rare Disease

MONDO:0013021

Also Known As

DIRAInterleukin-1 receptor antagonist deficiencyOMPPautoinflammatory disease due to interleukin-1 receptor antagonist deficiencydeficiency of the Interleukin-1 receptor antagonistInterleukin 1 receptor antagonist deficiencydeficiency of interleukin-1 receptor antagonistosteomyelitis, STERILE multifocal, with periostitis and pustulosis

Definition

An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis.