NLRC4 encodes NLR family CARD domain containing 4 (1,024 aa). Key component of inflammasomes that indirectly senses specific proteins from pathogenic bacteria and fungi and responds by assembling an inflammasome complex that promotes caspase-1 activation, cytokine production and macrophage pyroptosis. Highest expression in Whole Blood (25.8 TPM) and Spleen (13.8 TPM).

Periodic fever-infantile enterocolitis-autoinflammatory syndrome is associated with mutations in the NLRC4 gene on chromosome 2.

The NLRC4 protein participates in TP53 stimulates NLRC4 expression, p-S15,S20-TP53:NLRC4 Gene, and TP53 Regulates Transcription of Caspase Activators and Caspases pathways.

NLRC4 is classified as a druggable target with score 0.0.

Genetic testing for NLRC4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for periodic fever-infantile enterocolitis-autoinflammatory syndrome has been reported in the published literature.

Phenotype severity distribution: 11 always present features, 12 common features.

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

1 clinical trial registered. Interventions under study include biologic therapy. Pipeline includes 1 PHASE2. Research is primarily industry-sponsored.

208 publications have been identified in PubMed for periodic fever-infantile enterocolitis-autoinflammatory syndrome. Kisho has analyzed 102 by research type. Research spans Review / Meta-Analysis (36%), Epidemiology / Natural History (30%), and Basic Science / Preclinical (22%).

Recent Publications

• Kiral FR (2026). [PMID: 41475351](https://pubmed.ncbi.nlm.nih.gov/41475351/). *Cell Stem Cell*. [Epidemiology / Natural History]

• Liu Y (2026). [PMID: 40854106](https://pubmed.ncbi.nlm.nih.gov/40854106/). *FEBS Lett*. [Review / Meta-Analysis]

• Nowak E (2026). [PMID: 42236009](https://pubmed.ncbi.nlm.nih.gov/42236009/). *Vitam Horm*. [Review / Meta-Analysis]

• Hepler C (2026). [PMID: 41708974](https://pubmed.ncbi.nlm.nih.gov/41708974/). *Nat Metab*. [Basic Science / Preclinical]

• Wang H (2026). [PMID: 40976342](https://pubmed.ncbi.nlm.nih.gov/40976342/). *J Affect Disord*. [Epidemiology / Natural History]

• Singh I (2025). [PMID: 41033089](https://pubmed.ncbi.nlm.nih.gov/41033089/). *Pathol Res Pract*. [Review / Meta-Analysis]

• Dotan A (2025). [PMID: 39931017](https://pubmed.ncbi.nlm.nih.gov/39931017/). *Harefuah*. [Review / Meta-Analysis]

• Wong KM (2025). [PMID: 40590574](https://pubmed.ncbi.nlm.nih.gov/40590574/). *Mov Disord*. [Case Report / Case Series]

• Yacoub MR (2025). [PMID: 40747632](https://pubmed.ncbi.nlm.nih.gov/40747632/). *Curr Opin Allergy Clin Immunol*. [Review / Meta-Analysis]

• Anselmi F (2025). [PMID: 40632467](https://pubmed.ncbi.nlm.nih.gov/40632467/). *Paediatr Drugs*. [Review / Meta-Analysis]