" /> Deficiency of the Interleukin-1 Receptor Antagonist - CISMeF





Preferred Label : Deficiency of the Interleukin-1 Receptor Antagonist;

NCIt synonyms : Autoinflammatory Disease due to Interleukin-1 Receptor Antagonist Deficiency;

NCIt related terms : DIRA;

Alternative definition : NICHD: 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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28/07/2025


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