NLRP12 autoinflammatory disease: a Chinese case series and literature review

• Published in: Clinical rheumatology 2017-07, Vol.36 (7), p.1661-1667
• Main Authors: Shen, Min, Tang, Lin, Shi, Xiaochun, Zeng, Xiaofeng, Yao, Qingping
• Format: Article
• Language: English
• Subjects: Adult; Arthralgia; Arthritis; Brief Report; China; Erythema; Exanthema; Female; Fever; Genotype; Genotyping; Glucocorticoids; Hereditary Autoinflammatory Diseases - diagnosis; Hereditary Autoinflammatory Diseases - genetics; Hereditary diseases; Humans; Intracellular Signaling Peptides and Proteins - genetics; Literature reviews; Lymphadenopathy; Male; Medicine; Medicine & Public Health; Middle Aged; Mutation; Myalgia; Oligomerization; Rheumatology; Urticaria
• ISSN: 0770-3198; 1434-9949
• DOI: 10.1007/s10067-016-3410-y

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.