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
Clinical features of patients with fungal infections caused by CARD9 deficiency: a literature review of case reports.
Tang C et al.
Frontiers in Cellular and Infection Microbiology, 2025
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
NLRP12-associated autoinflammatory disease: A novel causal mutation and bioinformatics analyses.
Li Z et al.
Clinical Immunology (orlando, Fla.), 2024
Identification of a Novel NLRP12 Frameshift Mutation (Val730Glyfs∗41) by Whole-Exome Sequencing in Patients with Crohn's Disease.
Chen J et al.
Human Mutation, 2024
Safety and efficacy of canakinumab treatment for undifferentiated autoinflammatory diseases: the data of a retrospective cohort two-centered study.
Alexeeva E et al.
Frontiers in Medicine, 2023
Genetic variations in NLRP3 and NLRP12 genes in adult-onset patients with autoinflammatory diseases: a comparative study.
Yun M et al.
Frontiers in Immunology, 2023
In-vitro NLRP3 functional test assists the diagnosis of cryopyrin-associated periodic syndrome (CAPS) patients: A Brazilian cooperation.
Mendonça LO et al.
Clinical Immunology (orlando, Fla.), 2022
Rare mutations in NLRP3 and NLRP12 associated with familial cold autoinflammatory syndrome: two Chinese pedigrees.
Chen S et al.
Clinical Rheumatology, 2022
Identification of variants in genes associated with autoinflammatory disorders in a cohort of patients with psoriatic arthritis.
Atschekzei F et al.
Rmd Open, 2022
NLRP12 and IL36RN mutations in a Portuguese woman with autoinflammatory syndrome.
Antunes-Duarte S et al.
Jaad Case Reports, 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 epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.
Jain A et al.
Journal, Genetic Engineering & Biotechnology, 2021
Novel NLRP12 variant presenting with familial cold autoimmunity syndrome phenotype.
Gupta L et al.
Annals of the Rheumatic Diseases, 2021
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
NLRP12 gene mutations and auto-inflammatory diseases: ever-changing evidence.
Del Porto F et al.
Rheumatology (oxford, England), 2020
Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity.
Suspitsin EN et al.
Clinical Genetics, 2020
Recent advances in elucidating the genetics of common variable immunodeficiency.
Aggarwal V et al.
Genes & Diseases, 2020
Whole exome sequencing in a child with acute disseminated encephalomyelitis, optic neuritis, and periodic fever syndrome: a case report.
Ledesma PA et al.
Journal of Medical Case Reports, 2019
Acquired Cold Urticaria vs. Autoinflammatory Diseases, Genetic and Clinical Profile and Differential Diagnosis: Study of a Cohort of Patients in a Tertiary Reference Centre.
Deza G et al.
Acta Dermato-venereologica, 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
Autoinflammatory disease with focus on NOD2-associated disease in the era of genomic medicine.
Yao Q et al.
Autoimmunity, 2019
Novel Deleterious Sequence Change in the NLRP12 Gene in a Child with the Autoinflammatory Syndrome, Joint Hypermobility and Cutis Laxa from India.
Ghosh K et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2019
A young girl with severe cerebral fungal infection due to card 9 deficiency.
Cetinkaya PG et al.
Clinical Immunology (orlando, Fla.), 2018
Multigene sequencing reveals heterogeneity of NLRP12-related autoinflammatory disorders.
Kostik MM et al.
Rheumatology International, 2018
Neither hereditary periodic fever nor periodic fever, aphthae, pharingitis, adenitis: Undifferentiated periodic fever in a tertiary pediatric center.
De Pauli S et al.
World Journal of Clinical Pediatrics, 2018
NLRP12 autoinflammatory disease: a Chinese case series and literature review.
Shen M et al.
Clinical Rheumatology, 2017
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
Omoyinmi E et al.
Plos One, 2017
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.
Rusmini M et al.
Annals of the Rheumatic Diseases, 2016
Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing.
Xia X et al.
Plos One, 2016
Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.
van Schouwenburg PA et al.
Clinical Immunology (orlando, Fla.), 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
Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study.
De Pieri C et al.
Pediatric Rheumatology Online Journal, 2015
Novel NLRP12 mutations associated with intestinal amyloidosis in a patient diagnosed with common variable immunodeficiency.
Borte S et al.
Clinical Immunology (orlando, Fla.), 2014
Working the endless puzzle of hereditary autoinflammatory disorders.
Caso F et al.
Modern Rheumatology, 2014
[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