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
41261519 (PubMed )
Supplement: supplement_1.xlsx › Feuil1
Association Between Pathogenic Variants in NLRP12 and Autoinflammatory Disease: A Comprehensive Systematic Review.
Vatandoost N et al.
International Journal of Immunogenetics, 2025
A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.
Al Qureshah F et al.
The Journal of Experimental Medicine, 2025
39680367 (PubMed )
Supplement: jem_20241413_tables3.xlsx › Sheet1
Deciphering the host genetic factors conferring susceptibility to severe COVID-19 using exome sequencing.
Uslu K et al.
Genes and Immunity, 2024
Implications of combined NOD2 and other gene mutations in autoinflammatory diseases.
Nomani H et al.
Frontiers in Immunology, 2023
Rare mutations in NLRP3 and NLRP12 associated with familial cold autoinflammatory syndrome: two Chinese pedigrees.
Chen S et al.
Clinical Rheumatology, 2022
Monogenic Adult-Onset Inborn Errors of Immunity.
Staels F et al.
Frontiers in Immunology, 2021
Genetic panel screening in patients with clinically unclassified systemic autoinflammatory diseases.
Demir F et al.
Clinical Rheumatology, 2020
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
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
The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.
Cantarini L et al.
Clinical Rheumatology, 2015
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