Case Report: NLRC4 Gene Variant Associated with Neonatal Enterocolitis

A 19.7 KB case report authored by Xing Wang and published under CC-BY-4.0 on figshare in May 2026 details a novel genetic finding. It describes a full-term male infant with severe necrotizing enterocolitis (NEC) requiring emergency surgery, where genetic testing identified a heterozygous truncating variant (c.1357C>T) in the NLRC4 gene. The report concludes that early NLRC4 screening may guide targeted therapies for severe intestinal inflammation in neonates.

Use Cases

• Identifying genetic markers for severe neonatal enterocolitis based on the described NLRC4 variant.
• Studying the clinical presentation of autoinflammatory syndromes in term infants based on the detailed case history.
• Exploring genotype-phenotype correlations for NLRC4 gain-of-function mutations based on the pathological findings.

Strengths

• Report includes specific genetic variant details (c.1357C>T, p.Arg453*) and surgical findings (80 cm of necrotic intestine).
• Published under a permissive CC-BY-4.0 license, allowing for reuse and sharing.

Limitations

• The dataset is a single case report (19.7 KB DOCX), representing a sample size of one patient.
• Column-level documentation for any potential structured data is absent; field semantics must be inferred after download.
• Data may reflect the specific bias inherent to a single case study from an unspecified institution.

Provenance

Source

figshare

Collection Method

Case report authored by Xing Wang.

Freshness

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