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ARD: Low rates of somatic NLRC4 mutations cause late-onset autoinflammatory disease

 Last Update: 2022-08-19
 Source: Internet
 Author: User

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Objective: Germline gain-of-function mutations in NLRC4 are known to be associated with autoinflammation in infantile enterocolitis/recurrent macrophage activation syndrome or familial cold autoinflammatory syndrom.

Methods: A research team from Zhejiang University performed whole-exome/genome sequencing and digital droplet PCR (ddPCR) to identify pathogenic somatic mutation.

Results: We identified a somatic mutation in NLRC4 (.

Conclusions: This study reports a case of late-onset autoinflammatory disease caused by somatic NLRC4 mutations in a small subset of leukocyte.

Source: Wang J, Ye Q, Zheng W, et a.

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