NOD2 encodes nucleotide binding oligomerization domain containing 2 (1,040 aa). Pattern recognition receptor (PRR) that detects bacterial peptidoglycan fragments and other danger signals and plays an important role in gastrointestinal immunity. Highest expression in Skin Sun Exposed Lower leg (18.6 TPM) and Vagina (16.5 TPM).

Blau syndrome is caused by mutations in the NOD2 gene on chromosome 16.

The NOD2 protein participates in MDP elicits a NOD2 response pathway.

NOD2 is classified as a druggable target (Cell Surface, Druggable Genome, and Kinase categories) with score 7.5.

Genetic testing for NOD2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Blau syndrome has been reported in the published literature.

Phenotype severity distribution: 3 very common features, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

4 clinical trials registered, 2 recruiting. Interventions under study include drug therapy and other interventions. Pipeline includes 1 PHASE4. Research is primarily sponsored by academic and government institutions.

51 publications have been identified in PubMed for Blau syndrome. Research spans Case Report / Case Series (47%), Review / Meta-Analysis (16%), and Basic Science / Preclinical (16%).

Recent Publications

• Chithrabhanu A (2026). [PMID: 42144841](https://pubmed.ncbi.nlm.nih.gov/42144841/). *Int J Rheum Dis*. [Case Report / Case Series]

• Jain P (2026). [PMID: 41902739](https://pubmed.ncbi.nlm.nih.gov/41902739/). *Ocul Immunol Inflamm*. [Case Report / Case Series]

• Song H (2026). [PMID: 41888882](https://pubmed.ncbi.nlm.nih.gov/41888882/). *Arthritis Res Ther*. [Gene Therapy / Novel Therapeutics]

• Zheng J (2026). [PMID: 41859084](https://pubmed.ncbi.nlm.nih.gov/41859084/). *Front Immunol*. [Case Report / Case Series]

• Han X (2026). [PMID: 41491690](https://pubmed.ncbi.nlm.nih.gov/41491690/). *BMC pediatrics*. [Case Report / Case Series]

• Bohbot E (2026). [PMID: 40855977](https://pubmed.ncbi.nlm.nih.gov/40855977/). *Current opinion in rheumatology*. [Review / Meta-Analysis]

• Hacker V (2026). [PMID: 42124504](https://pubmed.ncbi.nlm.nih.gov/42124504/). *Acta Derm Venereol*. [Case Report / Case Series]

• Wu D (2026). [PMID: 41678017](https://pubmed.ncbi.nlm.nih.gov/41678017/). *Current rheumatology reports*. [Review / Meta-Analysis]

• Zhang J (2026). [PMID: 41673771](https://pubmed.ncbi.nlm.nih.gov/41673771/). *Advances in rheumatology (London, England)*. [Epidemiology / Natural History]

• Tantikittipisut P (2026). [PMID: 42205009](https://pubmed.ncbi.nlm.nih.gov/42205009/). *Ann Pediatr Endocrinol Metab*. [Case Report / Case Series]