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PFAPA syndrome is an auto-inflammatory disease (AID), characterized by recurrent fever aphtosis, pharyngitis and cervical adenitis. A familial predominance has been observed and variants in the NLRP3 gene were recently found in several patients. The NLRP3 Q703K variant was described so far in CAPS patient and in healthy carriers.

PReS-FINAL-2325: Different phenotypes associated with Q703K variant of the NLRP3 gene