A case of neonatal-onset autoinflammation with infantile enterocolitis caused by a de novoNLRC4 gene variation
10.3760/cma.j.cn113903-20220520-00512
- VernacularTitle:NLRC4基因变异致自身炎症反应伴婴幼儿小肠结肠炎新生儿期发病1例
- Author:
Ping CHENG
1
;
Huiqing SUN
;
Zengyuan YU
;
Mingchao LI
;
Lifeng LI
Author Information
1. 郑州大学附属儿童医院（河南省儿童医院、郑州儿童医院）新生儿科，郑州 450000
- Keywords:
Enterocolitis;
Systemic inflammatory response syndrome;
Calcium-binding proteins;
CARD signaling adaptor proteins;
Genetic variation;
Infant, newborn
- From:
Chinese Journal of Perinatal Medicine
2022;25(12):968-970
- CountryChina
- Language:Chinese
-
Abstract:
This article reported a case of neonatal-onset autoinflammation with infantile enterocolitis (AIFEC) caused by NLRC4 gene mutation. The boy developed the disease in the neonatal period, presenting with recurrent fever, rash, hepatosplenomegaly and enterocolitis. Laboratory tests showed some indicators including ferritin and C-reactive protein were elevated. His condition was complicated by macrophage activation syndrome and anti-infective treatment was ineffective. High-throughput whole exome sequencing revealed a de novo heterozygous mutation of c.1021G>C (p.Val341Leu) in the NLRC4 gene and AIFEC was confirmed. AIFEC is a rare disease with no effective treatment at present, which can be developed in the neonatal period and diagnosed by whole exome sequencing.
