A case of episodic and refractory arthritis due to a novel variant of NLRP12

It was with great interest that I read the paper by Gupta et al describing novel NLRP12 variant is linked to familial cold autoimmunity syndrome phenotype.1 Here, we reported a patient present with phenotypes of episodic and refractory arthritis due to another novel variant in NLRP12. A 28-year-old man presented at the age of 20 years with episodic pain, swelling and erythematous skin rash in his wrists, metacarpophalangeal, interphalangeal, knee and ankle joints. His symptoms typically occur once per 1–2 months and sometimes with the increased frequency of episodes to three to four times in 1 week. No identifiable factors were found to trigger the onset. Symptoms lasted from several hours to 3–5 days and subsided spontaneously. His erythrocyte sedimentation rate …