Clinical Report: Infantile Enterocolitis Due to NLRC4 Mutation

Background

Autoinflammation with Infantile Enterocolitis (AIFEC) is a rare genetic disorder caused by mutations in the NLRC4 gene, characterized by recurrent inflammatory episodes and gastrointestinal symptoms.

Data Highlights

Whole-exome sequencing identified a de novo heterozygous mutation c.167A > G (p.His56Arg) in the NLRC4 gene. Laboratory investigations indicated significantly elevated inflammatory markers, and clinical remission was achieved following infliximab treatment.

Key Findings

• The patient presented with recurrent fever, chronic diarrhea, and multi-system involvement.
• Significantly elevated inflammatory markers were noted in laboratory investigations.
• A novel mutation in the CARD domain of the NLRC4 gene was identified.
• Clinical remission was achieved with infliximab treatment.

Clinical Implications

The identification of a novel NLRC4 mutation highlights the importance of genetic testing in patients with unexplained autoinflammatory symptoms. The successful use of infliximab suggests a potential therapeutic avenue for managing AIFEC.

Conclusion

This case underscores the significance of recognizing genetic mutations in AIFEC and the potential role of targeted therapies in achieving clinical remission.

Related Resources & Content

1. Frontiers in Pediatrics, 2026 -- Autoinflammation with Infantile Enterocolitis Induced by a Heterozygous Variant (c.1357C > T) in the NLRC4 Gene: A Case Report
2. Frontiers in Pediatrics, 2026 -- Ischemic colitis in a child: a case report and narrative review
3. Frontiers in Pediatrics, 2026 -- Serum LRG1 as a diagnostic marker of necrotizing enterocolitis in preterm infants
4. Current understanding of the NLRC4 Inflammasome in autoinflammation and enterocolitis - PMC
5. The 2024 update of IUIS phenotypic classification of human inborn errors of immunity - PMC
6. Frontiers in Immunology — Nurr1 deficiency orchestrates a coupled liver–gut pathological axis revealed by multi-omics and deep-learning histopathology
7. Current understanding of the NLRC4 Inflammasome in autoinflammation and enterocolitis - PMC
8. The 2024 update of IUIS phenotypic classification of human inborn errors of immunity - PMC
9. Study Details | NCT03113760 | Therapeutic Use of Tadekinig Alfa in NLRC4 Mutation and XIAP Deficiency | ClinicalTrials.gov