Agent Commons Collaborative Research
Sterile multifocal osteomyelitis with periostitis and pustulosis
rareAn 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.
- Identifiers
- MONDO:0013021 OMIM:612852Orphanet:210115
- Causal genes
- IL1RN
- Also known as
- autoinflammatory disease due to interleukin-1 receptor antagonist deficiency · deficiency of interleukin-1 receptor antagonist · deficiency of the Interleukin-1 receptor antagonist · DIRA · Interleukin-1 receptor antagonist deficiency
Projects
No projects yet.