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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.
Features include always present findings: Failure to thrive in infancy, Pustule, Motor delay, and Increased total neutrophil count and others; and very common findings: Osteolysis. 25 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 6 | Mild bone density loss (osteopenia), Osteolysis, Bone infection (osteomyelitis) |
Digestive system | 2 | Enlarged liver (hepatomegaly), Enlarged spleen (splenomegaly) |
Blood and immune system | 2 | Increased total neutrophil count, Enlarged spleen (splenomegaly) |
Lungs and breathing | 2 | Respiratory distress, Lung scarring (pulmonary fibrosis) |
Skin | 2 | Skin rash, Thickened, rough skin (hyperkeratosis) |
Growth and development | 1 | Failure to thrive in infancy |
Pregnancy and birth | 1 | Fetal distress |
Lab test results | 1 | Elevated CRP (inflammation marker) (elevated circulating c-reactive protein concentration) |
Age of onset: newborn period, before birth, infancy.
IL1RN encodes interleukin 1 receptor antagonist (177 aa). Anti-inflammatory antagonist of interleukin-1 family of proinflammatory cytokines such as interleukin-1beta/IL1B and interleukin-1alpha/IL1A. Highest expression in Esophagus Mucosa (1,639 TPM) and Vagina (322.5 TPM).
Sterile multifocal osteomyelitis with periostitis and pustulosis is associated with mutations in the IL1RN gene on chromosome 2.
The IL1RN protein participates in IL10-upregulated plasma membrane proteins, IL10-upregulated genes for plasma membrane proteins, and IL10 positively regulates extracellular inflammatory mediators pathways.
IL1RN is classified as a druggable target (Druggable Genome category) with score 1.5.
Genetic testing for IL1RN is available. Testing is considered confirmatory for diagnosis.
1 FDA-approved treatment is available for sterile multifocal osteomyelitis with periostitis and pustulosis, including ANAKINRA (KINERET, approved 2001).
Brand Name | Generic Name | Mechanism | Approved | Market Status |
|---|---|---|---|---|
KINERET | ANAKINRA | — | 2001 | Available |
View trials for sterile multifocal osteomyelitis with periostitis and pustulosis
Phenotype severity distribution: 15 always present features, 1 very common feature, 2 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for sterile multifocal osteomyelitis with periostitis and pustulosis.
8 publications have been identified in PubMed for sterile multifocal osteomyelitis with periostitis and pustulosis. Research spans Review / Meta-Analysis (38%), Case Report / Case Series (38%), and Basic Science / Preclinical (25%).
De Rose DU (2025). [PMID: 39804459](https://pubmed.ncbi.nlm.nih.gov/39804459/). *Paediatric drugs*. [Case Report / Case Series]
Yeoh BS (2025). [PMID: 40825603](https://pubmed.ncbi.nlm.nih.gov/40825603/). *ImmunoHorizons*. [Case Report / Case Series]
Haşlak F (2025). [PMID: 39757386](https://pubmed.ncbi.nlm.nih.gov/39757386/). *Balkan medical journal*. [Review / Meta-Analysis]
Dong W (2024). [PMID: 39191800](https://pubmed.ncbi.nlm.nih.gov/39191800/). *Scientific reports*. [Basic Science / Preclinical]
Urbaneja E (2024). [PMID: 38646532](https://pubmed.ncbi.nlm.nih.gov/38646532/). *Frontiers in immunology*. [Case Report / Case Series]
Gonçalves Barros WR (2024). [PMID: 40060136](https://pubmed.ncbi.nlm.nih.gov/40060136/). *Archives of rheumatology*. [Review / Meta-Analysis]
Furer V (2024). [PMID: 39411288](https://pubmed.ncbi.nlm.nih.gov/39411288/). *Rheumatology advances in practice*. [Review / Meta-Analysis]
Haghighi F (2024). [PMID: 38537414](https://pubmed.ncbi.nlm.nih.gov/38537414/). *Medical image analysis*. [Basic Science / Preclinical]
Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 8:43 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center