Background: The emergence of worldwide pandemic caused by coronavirus 2 (SARS-CoV-2) has caused a radical change in everyday life. Patients diseased with FMF show manifestations and labs highly similar to COVID infected patients. In the current study, we evaluate the presence of variants in exon 10 of MEFV gene and the relation with severity of symptoms in patients with COVID-19 pneumonia.
Method: Thirty-nine COVID-19 infected patients admitted to Kasr Alainy medical school were divided into two groups moderate and severe. Sanger sequencing of exon 10 in MEVF gene was scanned in the 39 subjects.
Results: We identified variants in 10 out of 39 patients (26 %) with heterozygous variants in 9 patients (23 %) and homozygous in one patient (2.5 %). The most frequent variant found was the silent variant p.(P706 = ) (12.9 %) followed by missense variants p.(A744S) (7.7 %) and p.(V726A) (5.1 %). Striking result was that 90 % of patients with MEFV variants had moderate symptoms and without progression into the severe form of COVID-19 pneumonia.
Conclusion: Our results indicated that the presence of variants in MEFV gene (either benign or of uncertain significance) could have a role in determination of COVID-19 severity.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jgeb.2025.100473 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
MEFV gene variations in COVID-19 pneumonia patients (Pilot study).
J Genet Eng Biotechnol
March 2025
Departement of Clinical and Chemical Pathology, Kasr Alainy Medical School, Cairo University, Egypt.
Background: The emergence of worldwide pandemic caused by coronavirus 2 (SARS-CoV-2) has caused a radical change in everyday life. Patients diseased with FMF show manifestations and labs highly similar to COVID infected patients. In the current study, we evaluate the presence of variants in exon 10 of MEFV gene and the relation with severity of symptoms in patients with COVID-19 pneumonia.
View Article and Find Full Text PDFThe enigma of familial Mediterranean fever: phenotypic characterization of patients harboring variants of uncertain significance.
Rheumatology (Oxford)
March 2025
Department of Pediatric Rheumatology, Ümraniye Training and Research Hospital, University of Health Sciences, İstanbul, Turkey.
Objective: To assess the phenotypic characteristics of the patients carrying variants of uncertain significance (VUS) in the Mediterranean fever (MEFV) gene.
Methods: The study included patients carrying only VUS in the MEFV gene. Patients were excluded if they did not meet the pediatric criteria for familial Mediterranean fever (FMF).
An Association between MEFV Mutation and ANCA-Associated Vasculitis Involving the Central Nervous System and Lungs: Causality Under Scrutiny.
Eur J Case Rep Intern Med
February 2025
Instituto Aggeu Magalhães, Fundação Oswaldo Cruz (IAM/Fiocruz), Recife, Brazil.
Unlabelled: Familial Mediterranean fever (FMF) is traditionally associated with biallelic mutations in the MEFV gene; however, heterozygous mutations may also contribute to disease phenotypes. We report the case of a 42-year-old woman with heterozygous p.Met694Ile MEFV mutation, presenting with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis involving the central nervous system and lungs.
View Article and Find Full Text PDFSuccessful control of recurrent MAS by canakinumab in a Sjogren syndrome patient with homozygous MEFV P369S variants, and review of literatures.
Mod Rheumatol Case Rep
March 2025
Department of Medicine and Biosystem Science, Graduate School of Medical Science, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Macrophage activation syndrome (MAS) is an autoinflammatory condition, which severely complicates autoimmune diseases, such as SJIA, AOSD and SLE. MEFV gene encodes a component of Pyrin inflammasome, whose variants cause familial Mediterranean fever (FMF). We experienced a recurrent MAS case with homozygous MEFV P369S variants accompanied with Sjogren syndrome and pulmonary arterial hypertension, whose recurrent MAS was successfully treated with canakinumab.
View Article and Find Full Text PDFInvestigation of Microvascular Involvement Through Nailfold Capillaroscopic Examination in Children with Familial Mediterranean Fever.
Medicina (Kaunas)
February 2025
Department of Biostatistics and Medical Informatics, Duzce University, 81620 Duzce, Turkey.
Familial Mediterranean fever (FMF) is a lifelong autoinflammatory disease characterized by episodes of fever and aseptic polyserositis. Commonly associated with vasculitis, FMF's impact on microcirculation was investigated by examining nailfold capillaries using capillaroscopy. This study included 32 female and 28 male FMF patients diagnosed according to the Tel Hashomer and Yalçınkaya criteria and a control group of 20 female and 10 male age-matched cases.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!