Infection or autoinflammatory disease? Difficulties of differential diagnosis on the example of a carrier of the Q705K variant of the NLRP3 gene
The Q705K variant of the NLRP3 gene is considered a variant of uncertain significance and a risk factor contributing to the autoinflammatory disease phenotype. To present a clinical picture of the disease in a pediatric patient carrying the Q705K variant of the NLRP3 gene with a diagnosed cryopyrin-...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Journal Infectology
2025-03-01
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| Series: | Журнал инфектологии |
| Subjects: | |
| Online Access: | https://journal.niidi.ru/jofin/article/view/1743 |
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