NLRP12-associated autoinflammatory disease in Chinese adult patients: a single-centre study

Abstract

BackgroundNLRP12-associated autoinflammatory disease (NLRP12-AID) is an autosomal dominant autoinflammatory disorder caused by variants ofNLRP12gene. We aimed to report a cohort of Chinese adult patients withNLRP12-AID and summarised phenotypes and genotypes.MethodsTwenty patients were diagnosed withNLRP12-AID after performing whole-exome sequencing and were included in our cohort. Demographic information, clinical data and treatment response were collected and evaluated. A literature review ofNLRP12-AID was performed, and the clinical features and mutated sites were summarised and compared with our cohort.ResultsAmong the 20NLRP12-AID patients, the main clinical features ofNLRP12-AID included fever, cutaneous rash, arthralgia/arthritis, pharyngitis/tonsillitis, lymphadenopathy, myalgia and abdominal pain/diarrhoea. ThirteenNLRP12variants were detected as F402L, G39V, R1030X, R7G, E24A, Q90X, A218V, A259V, W581X, G729R, R859W, c.-150T>C and c.*126G>C. Glucocorticoids were used in 14 patients, immunosuppressive agents in 13, and tocilizumab in 2. Seventeen patients had good responses to therapy. When compared with 50NLRP12-AID patients from other countries, Chinese patients had fewer variants in exon 3, higher incidences of cutaneous rash, pharyngitis/tonsillitis and lymphadenopathy. Among all these 70NLRP12-AID patients, patients carrying non-exon-3 variants had higher frequencies of ocular involvement, pharyngitis/tonsillitis, headache and lymphadenopathy than those with exon-3 variants.ConclusionThis is the largest cohort ofNLRP12-AID in the world and seven novel variants ofNLRP12were identified. Chinese adult patients ofNLRP12-AID had more non-specific symptoms such as pharyngitis/tonsillitis and lymphadenopathy when compared with patients from other countries, for which the less occurrence of exon-3 variants might be one possible reason.