NLRP3 encodes NLR family pyrin domain containing 3 (1,036 aa). Sensor component of the NLRP3 inflammasome, which mediates inflammasome activation in response to defects in membrane integrity, leading to secretion of inflammatory cytokines IL1B and IL18 and pyroptosis. Highest expression in Whole Blood (23.3 TPM) and Lung (6.7 TPM).

Familial cold autoinflammatory syndrome 1 is associated with mutations in the NLRP3 gene on chromosome 1.

The NLRP3 protein participates in CLEC7A/inflammasome pathway pathway.

NLRP3 is classified as a druggable target (Druggable Genome category) with score 5.8.

Genetic testing for NLRP3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for familial cold autoinflammatory syndrome 1 has been reported in the published literature.

Phenotype severity distribution: 8 always present features.

No clinical trials have been registered for familial cold autoinflammatory syndrome 1.

55 publications have been identified in PubMed for familial cold autoinflammatory syndrome 1. Research spans Case Report / Case Series (29%), Review / Meta-Analysis (22%), and Basic Science / Preclinical (22%).

Recent Publications

• Palmeri S (2026). [PMID: 41365842](https://pubmed.ncbi.nlm.nih.gov/41365842/). *Rheumatology (Oxford)*. [Case Report / Case Series]

• Bardoulet L (2026). [PMID: 42124567](https://pubmed.ncbi.nlm.nih.gov/42124567/). *bioRxiv*. [Basic Science / Preclinical]

• Koga T (2026). [PMID: 41620931](https://pubmed.ncbi.nlm.nih.gov/41620931/). *Expert Rev Clin Immunol*. [Review / Meta-Analysis]

• Park YH (2026). [PMID: 41851524](https://pubmed.ncbi.nlm.nih.gov/41851524/). *Nat Immunol*. [Basic Science / Preclinical]

• Toledano-Pinedo M (2026). [PMID: 41750257](https://pubmed.ncbi.nlm.nih.gov/41750257/). *Biomolecules*. [Review / Meta-Analysis]

• Snouwaert JN (2026). [PMID: 41797712](https://pubmed.ncbi.nlm.nih.gov/41797712/). *JCI Insight*. [Basic Science / Preclinical]

• Chu H (2026). [PMID: 41086530](https://pubmed.ncbi.nlm.nih.gov/41086530/). *Eur J Med Chem*. [Gene Therapy / Novel Therapeutics]

• Nicholas T (2026). [PMID: 41451028](https://pubmed.ncbi.nlm.nih.gov/41451028/). *JAAD Case Rep*. [Case Report / Case Series]

• Aslani N (2026). [PMID: 42163195](https://pubmed.ncbi.nlm.nih.gov/42163195/). *BMC Pediatr*. [Case Report / Case Series]

• Koller BH (2026). [PMID: 41723527](https://pubmed.ncbi.nlm.nih.gov/41723527/). *J Neuroinflammation*. [Basic Science / Preclinical]