Usage Information
Abstract
Pyrin, a protein encoded by the MEFV gene, plays a vital role in innate immunity by sensing modifications in Rho GTPase and assembling the pyrin inflammasome, which in turn activates downstream immune responses. We identified a novel and de novo MEFV p.E583A dominant variant in 3 patients from the same family; the variant was distinct from the previously reported S242 and E244 sites. These patients exhibited a phenotype that diverged from those resulting from classical MEFV gene mutations, characterized by the absence of recurrent fever but the presence of recurrent chest and abdominal pain. Colchicine effectively controlled the phenotype, and the mutation was found to induce pyrin inflammasome assembly and activation in patients’ peripheral blood mononuclear cells (PBMCs) and cell lines. Mechanistically, truncation experiments revealed that the E583A variant affected the autoinhibitory structure of pyrin. Our study offers insights into the mechanisms underlying pyrin inflammasome activation.
Authors
Qintao Wang, Taijie Jin, Shan Jian, Xu Han, Hongmei Song, Qing Zhou, Xiaomin Yu
Usage data is cumulative from July 2025 through July 2026.
| Usage | JCI | PMC |
|---|---|---|
| Text version | 1,919 | 192 |
| 282 | 41 | |
| Figure | 643 | 0 |
| Table | 208 | 0 |
| Supplemental data | 234 | 20 |
| Citation downloads | 401 | 0 |
| Totals | 3,687 | 253 |
| Total Views | 3,940 | |
Usage information is collected from two different sources: this site (JCI) and Pubmed Central (PMC). JCI information (compiled daily) shows human readership based on methods we employ to screen out robotic usage. PMC information (aggregated monthly) is also similarly screened of robotic usage.
Various methods are used to distinguish robotic usage. For example, Google automatically scans articles to add to its search index and identifies itself as robotic; other services might not clearly identify themselves as robotic, or they are new or unknown as robotic. Because this activity can be misinterpreted as human readership, data may be re-processed periodically to reflect an improved understanding of robotic activity. Because of these factors, readers should consider usage information illustrative but subject to change.
