Associated Papers
Adalimumab-responsive Monogenic Inflammatory Bowel Disease With Pseudopolyposis Characteristic of TGFBR2 Variant in Loeys-Dietz Syndrome.
Sado T et al.
Den Open, 2026
Familial Mediterranean Fever Presenting with Recurrent Abdominal Pain without Periodic Fever following COVID-19: A Case Report.
Ueno N et al.
Internal Medicine (tokyo, Japan), 2026
Genetic, and clinical features in Italian and lebanese subjects with familial mediterranean fever (FMF).
Jaber N et al.
European Journal of Internal Medicine, 2026
Anti-citrullinated Protein Antibody-positive Arthralgia Associated with an L110P-E148Q Double Heterozygote: A Case-based Review.
Itoh K et al.
Internal Medicine (tokyo, Japan), 2026
The clinical significance of the Mediterranean fever gene MEFV variants in Castleman disease.
Du Y et al.
Communications Medicine, 2026
IFNAR2 p.F8S Variant Associates with Severe COVID-19 and Adaptive Immune Cell Activation Modulation.
Malvestiti F et al.
International Journal of Molecular Sciences, 2026
Accurate Diagnosis of Familial Mediterranean Fever Improved Quality of Life for a Patient and Her Family: A Case Report.
Kurihara M et al.
Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi, 2026
Impact of Mediterranean Fever Gene Mutations on Clinical Characteristics in Patients With Inflammatory Bowel Disease.
Nakamura T et al.
Gastro Hep Advances, 2026
Identification of pathogenic MEFV variants in Korean patients with familial Mediterranean fever via whole-genome sequencing: a case report.
Choi SR et al.
Journal of Rheumatic Diseases, 2025
Non-canonical manifestations of FMF in homozygous M694V MEFV genotype: Insights from a large patient cohort.
Giat E et al.
Seminars in Arthritis and Rheumatism, 2025
Neurological involvement in children with familial Mediterranean fever: a systematic review.
La Bella S et al.
Pediatric Rheumatology Online Journal, 2025
S100A9 promotes inflammasome-dependent autoinflammation by blocking the degradation of SYK tyrosine kinase.
Wolf J et al.
Journal of Leukocyte Biology, 2025
[Genetic diagnostics in fever syndromes].
Gebhardt C et al.
Zeitschrift Fur Rheumatologie, 2025
Successful control of recurrent MAS by canakinumab in a Sjögren syndrome patient with homozygous MEFV P369S variants and review of literatures.
Ono N et al.
Modern Rheumatology Case Reports, 2025
Pediatric Immunoglobulin A Vasculitis: Impact of Mediterranean Fever Gene Variants on Clinical Course and Inflammatory Markers.
Tunce E et al.
Turkish Archives of Pediatrics, 2025
Elderly-onset Familial Mediterranean Fever Carrying MEFV Exon 10 Variants in a Japanese Patient.
Fujita Y et al.
Internal Medicine (tokyo, Japan), 2025
The enigma of familial Mediterranean fever: phenotypic characterization of patients harbouring variants of uncertain significance.
Ulu K et al.
Rheumatology (oxford, England), 2025
Childhood Familial Mediterranean Fever in the United States: Spectrum of Clinical Phenotypes and MEFV Genotypes in a Cohort From Southeast Michigan.
Fathalla BM et al.
Journal of Clinical Rheumatology : Practical Reports on Rheumatic & Musculoskeletal Diseases, 2025
Unexpectedly high prevalence of familial Mediterranean fever in Slovakia.
Jesenak M et al.
Clinical and Experimental Medicine, 2025
Familial Mediterranean fever and MEFV gene variants in hidradenitis suppurativa: A systematic review.
Aw K et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025
Investigating the impact of tocilizumab on serum cytokines concentrations in Japanese FMF patients: a sub-analysis of the NUH01FMF study.
Koga T et al.
Immunological Medicine, 2025
Genetic variants in NHEJ1 and related DNA repair disorders: insights into phenotypic heterogeneity and links to hypoplastic myelodysplastic syndromes and familial hematological malignancies susceptibility.
Elbadry MI et al.
Annals of Hematology, 2025
Mediterranean fever gene variants may prevent the development of lupus nephritis in Japanese patients with systemic lupus erythematosus.
Endo Y et al.
Frontiers in Immunology, 2025
A Unique Complex Variation Profile in a Patient with Familial Mediterranean Fever (FMF): Triple Homozygous E148Q-P369S-R408Q - "Case Report".
Abi Chakra N et al.
The Application of Clinical Genetics, 2025
Pyrin-associated autoinflammation with neutrophilic dermatosis: A case report.
Bueno-Molina RC et al.
The Journal of Dermatology, 2024
Familial Mediterranean fever in children from central-southern Italy: a multicentric retrospective cohort study.
La Bella S et al.
Clinical Rheumatology, 2024
A Case of Familial Mediterranean Fever With Severe Attacks During Withdrawal Bleeding After Controlled Ovarian Hyperstimulation.
Tatara M et al.
Cureus, 2024
Inflammatory biomarker analysis confirms reduced disease severity in heterozygous patients with familial Mediterranean fever.
Elhani I et al.
Rmd Open, 2024
A patient with P369S/R408Q variants in the MEFV gene presented with clinical features of Kikuchi disease and Mollaret meningitis, successfully treated with colchicine.
Handa H et al.
Bmc Neurology, 2024
Cost-saving approach with screening of selected variants in genetic diagnosis in Turkish pediatric familial Mediterranean fever patients: a single center longitudinal study.
Sözeri B et al.
The Turkish Journal of Pediatrics, 2024
Familial Mediterranean fever: perspective on female fertility and disease course in pregnancy from a multicenter nationwide network.
Yurdakul FG et al.
Rheumatology International, 2024
Exploring factors for predicting colchicine responsiveness in children with PFAPA.
Özaslan Z 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
The significance of carrying MEFV variants in symptomatic and asymptomatic individuals.
Ben-Chetrit E et al.
Clinical Genetics, 2024
Altered expression of miR-17 and miR-148b in pediatric familial mediterranean fever patients.
Sokkar MF et al.
Clinical Rheumatology, 2024
Implementation of long-read sequencing for routine molecular diagnosis of familial mediterranean fever.
Vanhoye X et al.
Practical Laboratory Medicine, 2024
Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population.
Kovanda A et al.
International Journal of Molecular Sciences, 2024
Single Nucleotide Polymorphisms of the MEFV Gene E148Q Are Highly Associated With Disease Phenotype in Crohn's Disease.
Yamada S et al.
Inflammatory Bowel Diseases, 2024
Comparison of Clinical and Genetic Characteristics of Familial Mediterranean Fever Patients Among Adult Age Groups.
Fidan S et al.
The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology, 2024
Associations of MEFV gene variants, IL-33, and sST2 with the risk of Henoch-Schönlein purpura in children.
Ruan Y et al.
Heliyon, 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