<i>NLRP12</i>-associated autoinflammatory disease in Chinese adult patients: a single-centre study

Abstract

Background NLRP12 -associated autoinflammatory disease ( NLRP12 -AID) is an autosomal dominant autoinflammatory disorder caused by variants of NLRP12 gene. We aimed to report a cohort of Chinese adult patients with NLRP12 -AID and summarised phenotypes and genotypes. Methods Twenty patients were diagnosed with NLRP12 -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 of NLRP12 -AID was performed, and the clinical features and mutated sites were summarised and compared with our cohort. Results Among the 20 NLRP12 -AID patients, the main clinical features of NLRP12 -AID included fever, cutaneous rash, arthralgia/arthritis, pharyngitis/tonsillitis, lymphadenopathy, myalgia and abdominal pain/diarrhoea. Thirteen NLRP12 variants were detected as F402L, G39V, R1030X, R7G, E24A, Q90X, A218V, A259V, W581X, G729R, R859W, c.-150T&gt;C and c.*126G&gt;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 50 NLRP12 -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 70 NLRP12 -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. Conclusion This is the largest cohort of NLRP12 -AID in the world and seven novel variants of NLRP12 were identified. Chinese adult patients of NLRP12 -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.

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