Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.P369S
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MEFV

NM_000243.3:p.P369S

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

Cachexia as an unusual presentation of familial Mediterranean fever: A case report.

Sira AM et al.

World Journal of Clinical Cases, 2026

The Relationship Between Gene Subtypes, Symptoms, and Cardiac Function in Patients with Familial Mediterranean Fever.

Kızılkaya B et al.

Journal of Clinical 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

41596638 (PubMed )
Supplement: ijms-27-00992-s001.zip › Malvestiti_et_al.__Supplementary_Table__y.xlsx › Table_S1

Is the decision maker a key determinant of colchicine withdrawal success in paediatric heterozygous familial Mediterranean fever patients?

Özomay Baykal G et al.

Scandinavian Journal of Rheumatology, 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

Prevalence of neurological manifestation in familial mediterranean fever patients: systematic review & meta-analysis.

Hamad M et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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

Development of systemic amyloidosis in a patient with heterozygous P369S mutation in the MEFV gene.

Bulut Gökten D et al.

Clinical and Experimental Rheumatology, 2025

Evaluation of biological treatment in pediatric patients with familial Mediterranean fever: a retrospective study of 832 patients.

Pervane YD et al.

Expert Opinion on Biological Therapy, 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

The role of epigenetic modifications in systemic autoinflammatory diseases.

Cetin Gedik K et al.

Current Opinion in Immunology, 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

Genetic and clinical features of familial Mediterranean fever in a cohort of patients with kidney failure.

Sheyyab A et al.

Journal of Nephrology, 2025

Familial Mediterranean Fever; Recent Advances, Future Prospectives.

Romano M et al.

Diagnostics (basel, Switzerland), 2025

A treatment algorithm for familial Mediterranean fever patients with menstruation-associated attacks.

Batu ED et al.

Rheumatology (oxford, England), 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

The effect of gene dosage and age at the disease onset on the severity of familial Mediterranean fever.

Polat MC et al.

Postgraduate Medicine, 2025

Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.

Guo D et al.

Frontiers in Genetics, 2025

40421383 (PubMed )
Supplement: Table1.xlsx › Table_S4

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

Exploring the Role of MEFV Gene Mutations in Pediatric Drug-Resistant Epilepsy.

Habibi A et al.

Iranian Journal of Child Neurology, 2025

Co-occurrence of autoimmune diseases and metabolic disorders in familial mediterranean fever patients: review of literature and case reports.

Chaaban A et al.

Frontiers in Immunology, 2025

Association of Inflammasome Gene Expression Levels with Pathogenesis of Familial Mediterranean Fever in Armenians.

Hayrapetyan V et al.

International Journal of Molecular Sciences, 2024

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."