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Features include always present findings: Bone pain and Bone infection (osteomyelitis); and very common findings: Elevated erythrocyte sedimentation rate. 5 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 2 | Bone pain, Bone infection (osteomyelitis) |
IL1R1 encodes interleukin 1 receptor type 1 (569 aa). Receptor for IL1A, IL1B and IL1RN. Highest expression in Cells Cultured fibroblasts (188.5 TPM) and Lung (141.4 TPM).
Chronic recurrent multifocal osteomyelitis 3 is associated with mutations in the IL1R1 gene on chromosome 2.
The IL1R1 protein participates in IL10 negatively regulates plasma membrane-associated inflammatory mediators, IL10 negatively regulates extracellular inflammatory mediators, and IL1R1:IL1R1 inhibitors pathways.
IL1R1 is classified as a druggable target (Cell Surface, Druggable Genome, and External Side Of Plasma Membrane categories) with score 4.0.
Genetic testing for IL1R1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 always present features, 1 very common feature, 1 common feature.
No clinical trials have been registered for chronic recurrent multifocal osteomyelitis 3.
3 publications have been identified in PubMed for chronic recurrent multifocal osteomyelitis 3. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).
Huo Q (2025). [PMID: 40503910](https://pubmed.ncbi.nlm.nih.gov/40503910/). *Dis Model Mech*. [Basic Science / Preclinical]
Wongkittichote P (2025). [PMID: 40365325](https://pubmed.ncbi.nlm.nih.gov/40365325/). *JIMD Rep*. [Case Report / Case Series]
Sillence DO (2024). [PMID: 38942908](https://pubmed.ncbi.nlm.nih.gov/38942908/). *Calcif Tissue Int*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:06 PM UTC
Online Mendelian Inheritance in Man
Common questions about chronic recurrent multifocal osteomyelitis 3
1 |
Palmoplantar pustulosis |
Metabolism | 1 | Fever |
AI-curated news mentioning chronic recurrent multifocal osteomyelitis 3
Updated May 18, 2026
The German pediatric rheumatology society has released consensus-based recommendations for the diagnosis, treatment, and monitoring of chronic nonbacterial osteomyelitis (CNO) and chronic recurrent multifocal osteomyelitis (CRMO). This guidance aims to standardize care and improve outcomes for affected patients.