P03-002 - Different phenotypes associated with Q703K variant

PFAPA syndrome is characterized by recurrent fever with aphtosis, pharyngitis and cervical adenitis. It is suspected to be an auto-inflammatory disease (AID). For some AID, a monogenic origin has been established in the past years. In PFAPA no clear aetiology has been found yet. However in some patients variants in the NLRP3 gene can be found. The variant Q703K was described so far in patients with CAPS as well as healthy carriers.