Deficiency of the interleukin-1–receptor antagonist (Q5251548)
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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.
- Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency
- DIRA
- OMPP
- OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS; OMPP
- Deficiency of the Interleukin-1 Receptor Antagonist
- Interleukin-1 receptor antagonist deficiency
- OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS
- Interleukin 1 Receptor Antagonist Deficiency
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Deficiency of the interleukin-1–receptor antagonist |
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. |
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Statements
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C119056
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Identifiers
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