Article
Blau syndrome NOD2 mutations result in loss of NOD2 cross-regulatory function.
Frontiers in immunology - 1 Jan 2022
Mao Liming, Dhar Atika, Meng Guangxun, Fuss Ivan, Montgomery-Recht Kim, Yang Zhiqiong, Xu Qiuyun, Kitani Atsushi, Strober Warren
Abstract excerpt
The studies described here provide an analysis of the pathogenesis of Blau syndrome and thereby the function of NOD2 as seen through the lens of its dysfunction resulting from Blau-associated NOD2 mutations in its nucleotide-binding domain (NBD). As such, this analysis also sheds light on the role of NOD2 risk polymorphisms in the LRR domain occurring in Crohn's disease. The main finding was that Blau NOD2...
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