ArticleRheumatology international2018
Multigene sequencing reveals heterogeneity of NLRP12-related autoinflammatory disorders.
Article in Rheumatology international, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 55 citations in OpenAlex.
- Case Report: Familial Cold Autoinflammatory Syndrome With Double Variant inCase reports in medicine · 2026Article
- Case Report: A case of autoinflammatory disease with a novelFrontiers in medicine · 2026Article
- Cold-Induced Urticarias with Familial Background: Clinical Spectrum, Pathogenesis, and Diagnostic Challenges.Diagnostics (Basel, Switzerland) · 2025Review
- The role of NLRP3 and NLRP12 inflammasomes in glioblastoma.Genes and immunity · 2024Review
- NLRP3, NLRP6, and NLRP12 are inflammasomes with distinct expression patterns.Frontiers in immunology · 2024Article
- The expanding clinical spectrum of autoinflammatory diseases withFrontiers in immunology · 2024Review
- Review
- Autoinflammatory Recurrent Pericarditis Associated with a New NLRP12 Mutation in a Male Adolescent.Life (Basel, Switzerland) · 2023Article
- Clinical heterogeneity of NLRP12-associated autoinflammatory diseases.Genes & diseases · 2023Article
- Safety and efficacy of canakinumab treatment for undifferentiated autoinflammatory diseases: the data of a retrospective cohort two-centered study.Frontiers in medicine · 2023Article
- Rare mutations in NLRP3 and NLRP12 associated with familial cold autoinflammatory syndrome: two Chinese pedigrees.Clinical rheumatology · 2022Article
- NLRP12-associated systemic autoinflammatory diseases in children.Pediatric rheumatology online journal · 2022Review
- Contrasting role ofRMD open · 2021Article
- Syndrome of Undifferentiated Recurrent Fever (SURF): An Emerging Group of Autoinflammatory Recurrent Fevers.Journal of clinical medicine · 2021Review
- Prenatal detection and molecular cytogenetic characterization of 19q13.42 microduplication: three reported cases and literature review.Molecular cytogenetics · 2021Article
- The clinical phenotype and genotype of NLRP12-autoinflammatory disease: a Chinese case series with literature review.World journal of pediatrics : WJP · 2020Review
- Generalized Cytokine Increase in the Setting of a Multisystem Clinical Disorder and Carcinoid Syndrome Associated with a Novel NLRP12 Variant.Digestive diseases and sciences · 2019Article
- Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease.PLoS genetics · 2019Article
- Novel Deleterious Sequence Change in the NLRP12 Gene in a Child with the Autoinflammatory Syndrome, Joint Hypermobility and Cutis Laxa from India.Mediterranean journal of hematology and infectious diseases · 2019Article
- C3 glomerulopathy in NLRP12-related autoinflammatory disorder: case-based review.Rheumatology international · 2018Review
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
NLRP12-related autoinflammatory disease (NLRP12-AID) is an exceptionally rare autosomal dominant disorder caused by germline mutations in NLRP12 gene. Very few patients with NLRP12-AD have been identified worldwide; therefore, there is a scarcity of data on phenotypic presentation of this syndrome. Here we provide evidence that NLRP12-AID may have clinical manifestations characteristic for primary immune deficiencies (PID). 246 children with periodic fever (PF) of unknown origin were subjects to the next generation sequencing (NGS) analysis; 213 of these patients had signs of primary immunodeficiency (PID) manifested by recurrent infections, while 33 kids had isolated PF. The NGS panel was composed of 302 genes implicated in PID and/or AID. 15 patients (9 girls and 6 boys) with NLRP12-AID were identified. Median age of first AID-related fever episode was 12 months, ranging from 2 months to 13 years. Main clinical features of NLRP12-related AID were periodic fever (100%), abdominal pain and diarrhea (47%), arthralgia (20%), headache (20%) and failure to thrive (33%). Nine patients demonstrated increased susceptibility to infection and two children suffered from Crohn's disease. Administration of short courses of NSAID or corticosteroids resulted in resolution of the disease flare. In one severe case, canakinumab (anti-interleukin-1β antibody) was successfully used. Significant number of patients with genetically assigned diagnosis of NLPR12-AID has clinical features which close resemble primary immune deficiency. This phenotypic overlap may result in underdiagnosis of NLPR12-AID among patients with PID.
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