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NLRP12 autoinflammatory disease: a Chinese case series and literature review.

NLRP12 autoinflammatory disease: a Chinese case series and literature review.
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Shen M, Tang L, Shi X, Zeng X, Yao Q,


Shen M, Tang L, Shi X, Zeng X, Yao Q, (click to view)

Shen M, Tang L, Shi X, Zeng X, Yao Q,

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Clinical rheumatology 2016 9 16()

Abstract

As one of the systemic autoinflammatory diseases (SAIDs), the nucleotide-binding oligomerization domain-like receptor protein (NLRP)12 autoinflammatory disease (NLRP12-AD) is an autosomal dominant disorder associated with NLRP12 mutation. SAIDs have been hardly reported in the Chinese population, and NLRP12-AD has been reported only in Caucasians. We report the first case series of NLRP12-AD in the Chinese population coupled with literature review. Three Han Chinese adult patients with clinical phenotype suggestive of NLRP12-AD carrying NLRP12 variants were treated by the authors in 2015. Their phenotype and genotype were carefully studied. A PubMed search for SAIDs was conducted between January, 1990 and January, 2016, and we focused on NLRP12-AD. All three adult patients developed periodic disease in adulthood. They presented with recurrent fever (n = 3), polyarthralgia (n = 3), myalgia (n = 3), urticaria (n = 2), lymphadenopathy (n = 2), and erythema nodosa (n = 1). All patients carry the NLRP12 mutation F402L. Based upon our analysis of a total of 26 patients with NLRP12-AD in the literature, both familial and sporadic cases were equally reported and late-onset cases accounted for 28 %. NLRP12-AD patients typically present with periodic fever, urticaria-like rash, arthralgia/arthritis, myalgia, and lymphadenopathy. Genotyping identifies the NLRP12 gene mutations, notably F402L (55 %). Relative to the literature reports, our patients had the similar phenotypic and genotypic features. Patients with NLRP12-AD usually respond to glucocorticoid therapy. Our report is the first to confirm the presence of NLRP12-AD in the Chinese population. It highlights the importance of screening NLRP12 in patients with unexplained periodic fever syndrome.

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