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Updated: Sep 26, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Low-ratio somatic NLRC4 mutation causes late-onset autoinflammatory disease
Jun Wang1,2, Qiao Ye3, Wenjie Zheng4
1Life Sciences Institute, Zhejiang University, Hangzhou, Zhejiang, China.
A somatic mutation in NLRC4 causes late-onset autoinflammatory disease. This study identified the mutation in monocytes and demonstrated a potential treatment targeting gasdermin D.
Area of Science:
- Genetics
- Immunology
- Molecular Biology
Background:
- Autoinflammatory diseases are a group of genetic disorders characterized by seemingly spontaneous inflammation.
- Late-onset forms of these diseases can present with complex symptoms including arthritis, fever, and skin rashes, posing diagnostic challenges.
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