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
Dysregulation of inflammasomes in autoinflammatory diseases.
Hou C et al.
Joint Bone Spine, 2025
Association Between Pathogenic Variants in NLRP12 and Autoinflammatory Disease: A Comprehensive Systematic Review.
Vatandoost N et al.
International Journal of Immunogenetics, 2025
Rare Genetic Variants of NLRP12 in Admixed Latino-American Children With SARS-CoV-2-Related Multisystem Inflammatory Syndrome.
Barreto TMM et al.
The Journal of Infectious Diseases, 2024
NLRP12-associated autoinflammatory disease: A novel causal mutation and bioinformatics analyses.
Li Z et al.
Clinical Immunology (orlando, Fla.), 2024
Genetic insights into MIS-C Post-COVID-19 in Kuwaiti children: investigating monogenic factors.
Dashti M et al.
Frontiers in Cellular and Infection Microbiology, 2024
The role of NLRP12 in inflammatory diseases.
Huang L et al.
European Journal of Pharmacology, 2023
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
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.
Kernan KF et al.
Journal of Clinical Immunology, 2022
Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.
Sharma P et al.
Frontiers in Genetics, 2021
Monogenic Adult-Onset Inborn Errors of Immunity.
Staels F et al.
Frontiers in Immunology, 2021
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
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
Periodic fever syndromes and the autoinflammatory diseases (AIDs).
Marino A et al.
Journal of Translational Autoimmunity, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
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
Proteasomal degradation of NOD2 by NLRP12 in monocytes promotes bacterial tolerance and colonization by enteropathogens.
Normand S et al.
Nature Communications, 2018
Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease.
Alsultan A et al.
Genetic Testing and Molecular Biomarkers, 2018
C3 glomerulopathy in NLRP12-related autoinflammatory disorder: case-based review.
Başaran Ö et al.
Rheumatology International, 2018
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 labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.
Cantarini L et al.
Clinical Rheumatology, 2015
Working the endless puzzle of hereditary autoinflammatory disorders.
Caso F et al.
Modern Rheumatology, 2014
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.
Rodriguez-Flores JL et al.
Human Mutation, 2014
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
An international registry on autoinflammatory diseases: the Eurofever experience.
Toplak N et al.
Annals of the Rheumatic Diseases, 2012
Role of interleukin-1β in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy.
Jéru I et al.
Arthritis and Rheumatism, 2011
Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes.
Jéru I et al.
Arthritis and Rheumatism, 2011
The inflammasomes in health and disease: from genetics to molecular mechanisms of autoinflammation and beyond.
Conforti-Andreoni C et al.
Cellular & Molecular Immunology, 2011
Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation.
Borghini S et al.
Arthritis and Rheumatism, 2011
Inflammasome-associated nucleotide-binding domain, leucine-rich repeat proteins and inflammatory diseases.
Jha S et al.
Journal of Immunology (baltimore, Md. : 1950), 2009
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