Associated Papers
Novel Variant in the NLRP12 Gene: Insights From a Case Report and Systematic Review.
Bouramtane A et al.
International Journal of Immunogenetics, 2025
Association Between Pathogenic Variants in NLRP12 and Autoinflammatory Disease: A Comprehensive Systematic Review.
Vatandoost N et al.
International Journal of Immunogenetics, 2025
NLRP12-associated autoinflammatory disease: A novel causal mutation and bioinformatics analyses.
Li Z et al.
Clinical Immunology (orlando, Fla.), 2024
Rare mutations in NLRP3 and NLRP12 associated with familial cold autoinflammatory syndrome: two Chinese pedigrees.
Chen S et al.
Clinical Rheumatology, 2022
NLRP12-associated systemic autoinflammatory diseases in children.
Wang HF
Pediatric Rheumatology Online Journal, 2022
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
NLRP12 gene mutations and auto-inflammatory diseases: ever-changing evidence.
Del Porto F et al.
Rheumatology (oxford, England), 2020
The clinical phenotype and genotype of NLRP12-autoinflammatory disease: a Chinese case series with literature review.
Wang W et al.
World Journal of Pediatrics : Wjp, 2020
Single-Center Overview of Pediatric Monogenic Autoinflammatory Diseases in the Past Decade: A Summary and Beyond.
Wang W et al.
Frontiers in Immunology, 2020
Generalized Cytokine Increase in the Setting of a Multisystem Clinical Disorder and Carcinoid Syndrome Associated with a Novel NLRP12 Variant.
Jacob N et al.
Digestive Diseases and Sciences, 2019
Multigene sequencing reveals heterogeneity of NLRP12-related autoinflammatory disorders.
Kostik MM et al.
Rheumatology International, 2018
NLRP12 autoinflammatory disease: a Chinese case series and literature review.
Shen M et al.
Clinical Rheumatology, 2017
Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.
Martorana D et al.
Frontiers in Immunology, 2017
Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing.
Xia X et al.
Plos One, 2016
Clinical utility gene card for: prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes).
Witsch-Baumgartner M et al.
European Journal of Human Genetics : Ejhg, 2015
The expanding spectrum of rare monogenic autoinflammatory diseases.
Touitou I et al.
Orphanet Journal of Rare Diseases, 2013
The genetics of innate immunity sensors and human disease.
Pothlichet J et al.
International Reviews of Immunology, 2013
Mutations in NALP12 cause hereditary periodic fever syndromes.
Jéru I et al.
Proceedings of the National Academy of Sciences of the United States of America, 2008
[Relationship between the HBV core gene mutation and the cellular immunity in host].
Li J et al.
Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology, 2003