Cryopyrin associated periodic syndromes (CAPS) comprise a spectrum of autoinflammatory disorders of varying severity caused by mutations in the NLRP3 gene. The Q703K allele, reaching 5% of the total allele count in the general population, is considered either functional polymorphism or a low penetrance mutation AimTo describe the clinical phenotype of the Israeli patients in whom the Q703K allele was found.

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ObjectivesRecent studies have shown that interleukin-23 receptor (IL23R) polymorphisms confer susceptibility to ankylosing spondylitis, psoriasis, psoriatic arthritis and Crohn's disease. The A allele of rs1004819 was found in a significantly higher frequency among patients suffering from these diseases compared to controls. We aimed to determine the affect of rs1004819 in M694V homozygote FMF patients. MethodsWe typed 59 M694V homozygote FMF patients for the rs1004819 polymorphism, 27 of whom were defined as non responders to colchicine treatment. In addition we typed 57 ethnically matched controls. ResultsWe found an over representation of the A allele in the non responders (A-29, G-25) as compared to the controls (A-33, G-77) (p=0.01), while a similar frequency was found between the responders (A-24, G-40) and the controls (p= 0.3). ConclusionsThese results suggest that IL23 and its pathways are involved in the FMF inflammatory response. This association may provide new insights and treatment possibilities for FMF patients who do not respond to colchicine.

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