Deficiency of the interleukin-1–receptor antagonist

MeSH: C557815ORPHA: 210115

Overview

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

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Classification & Codes

MeSH Code

C557815

Orphanet Code

ORPHA:210115
Deficiency of the interleukin-1–receptor antagonist
MeSHC557815
OrphanetORPHA:210115
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
Deficiency of the interleukin-1–receptor antagonist | OrphanDrug