[Clinical phenotype and immunological features of a patient with A20 haploinsufficiency].

Yanyan Huang、Tingyan He、Yu Xia、Ying Luo、Ruohang Weng、Shuli Luo、Jun Yang、Xiaodong Zhao

2020PubMedBiochemistry, Genetics and Molecular Biology被引 1

摘要

This case with HA20 due to a de novo TNFAIP3 gene mutation presents with early onset Behcet-like autoinflammatory syndrome. This variation leads to expression of truncated A20 protein, enhanced degradation of IkBα, and further activation of nuclear factor κB signaling pathway.

引用本文（GB/T 7714）

Yanyan Huang, Tingyan He, Yu Xia, 等. [Clinical phenotype and immunological features of a patient with A20 haploinsufficiency].[J]. PubMed, 2020.

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DOI：https://doi.org/10.3760/cma.j.issn.0578-1310.2020.03.011

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