{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T15:29:02Z","timestamp":1784215742542,"version":"3.55.0"},"reference-count":21,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T00:00:00Z","timestamp":1779926400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Necrotizing enterocolitis (NEC) is s a life-threatening inflammatory intestinal disorder primarily affecting preterm infants, though rare in full-term neonates. NLR-family CARD domain-containing protein 4 (\n                      <jats:italic>NLRC4<\/jats:italic>\n                      ), a cytosolic inflammasome component driving IL-1\u03b2-mediated inflammation, is linked to autoinflammatory syndromes via germline gain-of-function mutations, though its role in term infant NEC remains underexplored.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      A full-term male infant developed NEC shortly after birth, requiring emergency surgical interventions including ileostomy and intestinal resection. Intraoperative findings revealed multifocal necrosis in the small intestine (80\u2005cm total length) and colon. Genetic testing identified a heterozygous\n                      <jats:italic>NLRC4<\/jats:italic>\n                      variant (c\n                      <jats:italic>.1357C<\/jats:italic>\n                      \u2009\n                      <jats:italic>&amp;gt;<\/jats:italic>\n                      \u2009\n                      <jats:italic>T, p. Arg 453*<\/jats:italic>\n                      ), inherited from an asymptomatic father. Sanger sequencing confirmed the mutation's\n                      <jats:italic>de novo<\/jats:italic>\n                      origin. Pathological analysis demonstrated transmural inflammation without evidence of Hirschsprung disease.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This report identifies a novel truncating variant in the\n                      <jats:italic>NLRC4<\/jats:italic>\n                      gene associated with severe autoinflammatory enterocolitis presenting as NEC in a term neonate. Early\n                      <jats:italic>NLRC4<\/jats:italic>\n                      screening may guide targeted therapies and improve outcomes in severe intestinal inflammation.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fped.2026.1822554","type":"journal-article","created":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T06:17:49Z","timestamp":1779949069000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Autoinflammation with infantile enterocolitis induced by a heterozygous variant (c.1357C\u2009&gt;\u2009T) in the NLRC4 gene: a case report"],"prefix":"10.3389","volume":"14","author":[{"given":"Xing","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Gastroenterology, Hepatology and Nutrition, Shanghai Children\u2019s Hospital, Shanghai Jiao Tong University","place":["Shanghai, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongmei","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Hepatology and Nutrition, Shanghai Children\u2019s Hospital, Shanghai Jiao Tong University","place":["Shanghai, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting","family":"Ge","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Hepatology and Nutrition, Shanghai Children\u2019s Hospital, Shanghai Jiao Tong University","place":["Shanghai, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Hepatology and Nutrition, Shanghai Children\u2019s Hospital, Shanghai Jiao Tong University","place":["Shanghai, China"]},{"name":"Institue of Pediatric Infection, Immunity and Critical Care Medicine, Shanghai Children\u2019s Hospital, Shanghai Jiao Tong University School of Medicine","place":["Shanghai, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaolu","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Hepatology and Nutrition, Shanghai Children\u2019s Hospital, Shanghai Jiao Tong University","place":["Shanghai, China"]},{"name":"Institue of Pediatric Infection, Immunity and Critical Care Medicine, Shanghai Children\u2019s Hospital, Shanghai Jiao Tong University School of Medicine","place":["Shanghai, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,5,28]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1007\/s40272-024-00626-w","article-title":"Neonatal necrotizing enterocolitis: an update on pathophysiology, treatment, and prevention","volume":"26","author":"Roberts","year":"2024","journal-title":"Paediatr 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