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Article

[Infantile onset inflammatory bowel disease in a child caused by heterozygous mutation of TNFAIP3].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jun 2020

Liu P, Wang Y S, Zhu Q Q, Yuan W H, Ding D K, Zhang D D, Huang Z H, Wang H L

Abstract excerpt

1例10月龄女婴因"间断发热、腹泻21 d"入院。患儿生后出现不明原因周期性发热、腹泻，本次并发多处小肠穿孔，行肠穿孔修补术，给予沙利度胺治疗后完全缓解。家系全外显子检测提示患儿为TNFAIP3基因自发杂合无义突变c.133C>T（p.R45X）所致婴儿型炎症性肠病。本病临床罕见。.

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Identifiers

PMID: 32521965
DOI: 10.3760/cma.j.cn112140-20191031-00690

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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