Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.P373L
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MEFV

NM_000243.3:p.P373L

Associated Papers

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

Updates on the role of epigenetics in familial mediterranean fever (FMF).

Chaaban A et al.

Orphanet Journal of Rare Diseases, 2024

An Update on Familial Mediterranean Fever.

Lancieri M et al.

International Journal of Molecular Sciences, 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

Is neutrophilic dermatosis a manifestation of familial Mediterranean fever?

Delplanque M et al.

Scandinavian Journal of Rheumatology, 2022

Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants.

Honda Y et al.

Journal of Clinical Immunology, 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

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.

Shinar Y et al.

Clinical Chemistry, 2020

British kindred with dominant FMF associated with high incidence of AA amyloidosis caused by novel MEFV variant, and a review of the literature.

Rowczenio DM et al.

Rheumatology (oxford, England), 2020

The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy.

Vitale A et al.

Internal and Emergency Medicine, 2017

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