NLRC4 Gene Variant Case Report for Infantile Enterocolitis

A case report by Xing Wang details a novel heterozygous truncating variant (c.1357C>T) in the NLRC4 gene associated with severe autoinflammatory enterocolitis presenting as necrotizing enterocolitis (NEC) in a full-term male infant. The report includes clinical presentation, genetic testing results, and pathological analysis findings. The document was last updated on May 28, 2026.

Use Cases

• Identify genetic markers for severe infantile enterocolitis based on the NLRC4 gene variant described.
• Support clinical decision-making for targeted therapies in neonatal necrotizing enterocolitis based on the genetic screening suggestion.
• Study genotype-phenotype correlations in autoinflammatory diseases based on the case presentation of a novel truncating variant.
• Investigate the role of NLRC4 inflammasome activity in term infant intestinal inflammation based on the pathological findings.

Strengths

• Report includes specific genetic variant identification (NLRC4 c.1357C>T, p.Arg453*).
• Clinical details are provided, including patient presentation (full-term male), surgical interventions, and pathological findings.
• Document is licensed under CC-BY-4.0 for open sharing and reuse.

Limitations

• Dataset is a single case report (19.1 KB DOCX file), representing a very limited sample size.
• Row count and column-level data structure are unknown; the primary content is narrative text.
• Freshness should be verified as the last update date is in the future (2026-05-28).

Provenance

Source

Xing Wang via figshare.

Collection Method

Clinical case study and genetic analysis.

Freshness

Last updated 2026-05-28 06:22:40; freshness should be verified.