Article
Infantile Onset Intractable Inflammatory Bowel Disease Due to Novel Heterozygous Mutations in TNFAIP3 (A20).
Inflammatory bowel diseases - 29 Nov 2018
Zheng Cuifang, Huang Ying, Ye Ziqing, Wang Yuhuan, Tang Zifei, Lu Junping, Wu Jie, Zhou Ying, Wang Lin, Huang Zhiheng, Yang Haowei, Xue Aijuan
Abstract excerpt
Background: Mutations in tumor necrosis factor alpha-induced protein 3 (TNFAIP3), a key player in the negative feedback regulation of nuclear factor-κB signaling, have recently been recognized as leading to early onset autoinflammatory and autoimmune syndrome. Here, we have reported the phenotypes of 3 infantile onset intractable inflammatory bowel disease (IBD) patients with TNFAIP3 mutations and reviewed...
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