title: NLRP12 autoinflammatory disease: a Chinese case series and literature review.
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.
authors.affiliation: Department of Rheumatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, 1 Shuaifuyuan, Dongcheng District, Beijing, NO, 100730, China. shenmpumch@163.com.
authors.forename: Min
authors.initials: M
authors.lastname: Shen
authors.affiliation: Department of Rheumatology, the Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.
authors.forename: Lin
authors.initials: L
authors.lastname: Tang
authors.affiliation: Department of Infectious Disease, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
authors.forename: Xiaochun
authors.initials: X
authors.lastname: Shi
authors.affiliation: Department of Rheumatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, 1 Shuaifuyuan, Dongcheng District, Beijing, NO, 100730, China.
authors.forename: Xiaofeng
authors.initials: X
authors.lastname: Zeng
authors.affiliation: Division of Rheumatology, Allergy, and Immunology, Stony Brook University School of Medicine, Stony Brook, NY, USA.
authors.forename: Qingping
authors.initials: Q
authors.lastname: Yao
mesh_terms: D000328:Adult; D002681:China; D005260:Female; D005838:Genotype; D056660:Hereditary Autoinflammatory Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C476731:NLRP12 protein, human
keywords: Autoinflammatory disease; Cryopyrin-associated periodic syndrome; Familial cold autoinflammatory syndrome; NLRP12-autoinflammatory disease; Nucleotide-binding oligomerization domain-like receptor protein; Urticaria