ReviewClinical rheumatology2017
NLRP12 autoinflammatory disease: a Chinese case series and literature review.
Review in Clinical rheumatology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 57 citations in OpenAlex.
- NLRP12 as a Regulator of Inflammation: Insights into the Correlation with Autoinflammatory Disorders.Genes · 2026Review
- SAVI: molecular mechanisms, clinical spectrum and precision medicine approaches beyond type-I IFN.Frontiers in immunology · 2026Review
- Case Report: Familial Cold Autoinflammatory Syndrome With Double Variant inCase reports in medicine · 2026Article
- Cold-Induced Urticarias with Familial Background: Clinical Spectrum, Pathogenesis, and Diagnostic Challenges.Diagnostics (Basel, Switzerland) · 2025Review
- Undifferentiated autoinflammatory disease in adults: a prospective study in 61 patients.Orphanet journal of rare diseases · 2025Article
- Genetic causes of primary immunodeficiency in the Jordanian population.Biomedical reports · 2024Article
- Genetically transitional disease: conceptual understanding and applicability to rheumatic disease.Nature reviews. Rheumatology · 2024Review
- Identification of a Novel NLRP12 Frameshift Mutation (Val730GlyfsHuman mutation · 2024Article
- NLRP3, NLRP6, and NLRP12 are inflammasomes with distinct expression patterns.Frontiers in immunology · 2024Article
- The riddle of recurrent fever: a clinical approach to pediatric autoinflammatory diseases.Frontiers in pediatrics · 2024Review
- Implications of combinedFrontiers in immunology · 2023Article
- High expression of NLRP12 predicts poor prognosis in patients with intracranial glioma.Journal of the Chinese Medical Association : JCMA · 2023Article
- Genetic variations in NLRP3 and NLRP12 genes in adult-onset patients with autoinflammatory diseases: a comparative study.Frontiers in immunology · 2023Article
- Article
- Whole-exome sequencing in a subject with fluctuating neuropsychiatric symptoms, immunoglobulin G1 deficiency, and subsequent development of Crohn's disease: a case report.Journal of medical case reports · 2022Article
- NLRP12-associated systemic autoinflammatory diseases in children.Pediatric rheumatology online journal · 2022Review
- Cutaneous Manifestations of Autoinflammatory Diseases.Rheumatology and immunology research · 2021Review
- Monogenic Adult-Onset Inborn Errors of Immunity.Frontiers in immunology · 2021Review
- Review
- The clinical phenotype and genotype of NLRP12-autoinflammatory disease: a Chinese case series with literature review.World journal of pediatrics : WJP · 2020Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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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