Associated Papers
The same genotype gives rise to a spectrum of disorders.
Yao Q
The Lancet. Rheumatology, 2025
New Diseases Linked to MEFV Variants or Pyrinopathies.
Mertz P et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2025
In Silico Study of Pyrin and 14-3-3 Protein Modulation During FMF and PAAND.
Paronyan A et al.
Acs Omega, 2025
Genotype-phenotype correlation in a cohort of pediatric patients with autoinflammatory diseases carrying NOD2 variants.
Natale MF et al.
Frontiers in Immunology, 2025
Pyrin-associated autoinflammation with neutrophilic dermatosis: A case report.
Bueno-Molina RC et al.
The Journal of Dermatology, 2024
The journey of MEFV heterozygous children: with or without colchicine.
Çakan M et al.
European Journal of Pediatrics, 2024
Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.
Muret K et al.
International Journal of Molecular Sciences, 2024
Impact of multiple MEFV variants of unknown significance on the diagnosis and clinical presentation of familial Mediterranean fever.
Kishida D et al.
Immunological Medicine, 2024
[Monogenic and acquired autoinflammatory diseases].
Szekanecz Z et al.
Orvosi Hetilap, 2024
Pyrin-associated autoinflammation with neutrophilic dermatosis related to heterozygous MEFV gene variants in cis: Two case reports in a family.
Wu N et al.
Gene, 2024
Behçet disease, familial Mediterranean fever and MEFV variations: More than just an association.
Seyahi E et al.
Clinical Immunology (orlando, Fla.), 2023
The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases.
La Bella S et al.
Frontiers in Immunology, 2023
Steroid hormone catabolites activate the pyrin inflammasome through a non-canonical mechanism.
Magnotti F et al.
Cell Reports, 2022
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
Dundar M et al.
Functional & Integrative Genomics, 2022
Is neutrophilic dermatosis a manifestation of familial Mediterranean fever?
Delplanque M et al.
Scandinavian Journal of Rheumatology, 2022
Homozygous MEFV Gene Variant and Pyrin-Associated Autoinflammation With Neutrophilic Dermatosis: A Family With a Novel Autosomal Recessive Mode of Inheritance.
Vahidnezhad H et al.
Jama Dermatology, 2021
Phenotypic analysis of pyrin-associated autoinflammation with neutrophilic dermatosis patients during treatment.
Van Nieuwenhove E et al.
Rheumatology (oxford, England), 2021
Frequencies of the MEFV Gene Mutations in Azerbaijan.
Huseynova LS et al.
Balkan Journal of Medical Genetics : Bjmg, 2021
Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants.
Honda Y et al.
Journal of Clinical Immunology, 2021
Phenotypical and Functional Characterization of Neutrophils in Two Pyrin-Associated Auto-inflammatory Diseases.
Malengier-Devlies B et al.
Journal of Clinical Immunology, 2021
Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2021
Colitis expands the phenotype of PAAND patients: new case report and review of the literature.
Valdivieso Shephard JL et al.
Rheumatology (oxford, England), 2021
Comment on: Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever.
Jamilloux Y et al.
Rheumatology (oxford, England), 2020
Comment on: Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever: reply.
Stella A et al.
Rheumatology (oxford, England), 2020
Periodic fever syndromes and the autoinflammatory diseases (AIDs).
Marino A et al.
Journal of Translational Autoimmunity, 2020
Pyrin dephosphorylation is sufficient to trigger inflammasome activation in familial Mediterranean fever patients.
Magnotti F et al.
Embo Molecular Medicine, 2019
Hereditary systemic autoinflammatory diseases and Schnitzler's syndrome.
Kacar M et al.
Rheumatology (oxford, England), 2019
Association of pyrin mutations and autoinflammation with complex phenotype hidradenitis suppurativa: a case-control study.
Vural S et al.
The British Journal of Dermatology, 2019
A case of neutrophilic dermatosis with MEFV gene variant and abnormal activation of peripheral blood monocytes: a case report.
Otsuka M et al.
Immunological Medicine, 2019
How to prescribe a genetic test for the diagnosis of autoinflammatory diseases?
Rowczenio DM et al.
Presse Medicale (paris, France : 1983), 2019
The Pyrin Inflammasome in Health and Disease.
Schnappauf O et al.
Frontiers in Immunology, 2019
Short-term efficacy of adalimumab in a patient with pyrin-associated autoinflammation with neutrophilic dermatosis.
Gargallo V et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2018
An Update on Autoinflammatory Diseases: Inflammasomopathies.
Harapas CR et al.
Current Rheumatology Reports, 2018
Novel aspects of the assembly and activation of inflammasomes with focus on the NLRC4 inflammasome.
Fusco WG et al.
International Immunology, 2018
A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever.
Moghaddas F et al.
Annals of the Rheumatic Diseases, 2017